phenylephrine-hydrochloride and Craniofacial-Abnormalities

Congenital frontonasal dysplasia (CFND) is a rare heterogeneous collection of facial deformities. Due to the range of complexity, surgical management is not standardized.. We present a severe case of CFND and approach to managing multiple defects with a focus on rhinoplasty.. This infant was born full term with a large mass instead of a nose, a bilateral cleft lip and palate, and hypertelorbitism. Our primary concerns initially were to address communication with the intracranial cavity, preserve a nasal lining, and improve nasal appearance and airway function in the short term without interfering with subsequent rhinoplasty and adult nasal appearance.. This complex case of CFND is more severe than anything we encountered in our literature review and demonstrates the necessity for multidisciplinary approach to multiple craniofacial defects. Future plans for this patient include rhinoplasty with auricular graft, scar revision, and addressing tip support.

Topics: Adult; Cleft Lip; Cleft Palate; Craniofacial Abnormalities; Face; Humans; Infant; Nose; Rhinoplasty

Arrhinia is defined as the partial or complete absence of the nasal structures. It is a defect of embryonal origin and can be seen in association with other craniofacial anomalies, central nervous system anomalies, absence of paranasal sinuses, and other palatal and ocular abnormalities. Very few patients with arrhinia have been reported so far in the history of modern medicine.. This study reports an adult patient with congenital partial arrhinia and reviews the literature along with the embryological basis of such a rare disease.. Arrhinia is a medical condition with scarce documentation in the literature. This article presents the clinical as well as radiological features of this rare entity.

Topics: Congenital Abnormalities; Craniofacial Abnormalities; Humans; Lacrimal Apparatus; Lacrimal Apparatus Diseases; Male; Maxillary Sinus; Multidetector Computed Tomography; Nasolacrimal Duct; Nose; Young Adult

The upper airway is a collapsible tube, and its collapsibility increases during sleep. Extrinsic factors such as atypical craniofacial features may increase the risks of airway collapse. We review early development of oral-facial structures and the anatomical variants that may be present at birth and can impact nasal breathing. After birth, there is a continuous interaction between orofacial functions and growth of anatomic features. We review the dysfunctions identified to date that may impact orofacial development leading to sleep-disordered-breathing through changes in the orofacial growth. The identification of risk-factors, ultimately leading to full-blown obstructive sleep apnea, may allow early recognition of these factors and the development of treatments to eliminate early problems or at least decrease their impact.

Topics: Child; Craniofacial Abnormalities; Humans; Nose; Pediatrics; Pharynx; Risk Factors; Sleep Apnea, Obstructive

Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin. Facial features were remarkable by nasal deformity with creased ridge and depressed or absent tip, widely spaced eyes, almond-shaped palpebral fissures, and downturned corners of the mouth. All had apparently normal psychomotor development. In addition, upper limb anomalies, frontonasal encephalocele, corpus callosum agenesis, choanal atresia, and congenital heart defect were observed. We identified five reports in the literature of patients presenting with the same phenotype. Exome sequencing was performed on DNA extracted from blood of two individuals, no candidate gene was identified. In conclusion, we report six novel simplex individuals presenting with a specific frontonasal dysplasia entity associating recognizable facial features, limb and visceral malformations, and apparently normal development. The identification of discordant monozygotic twins supports the hypothesis of a mosaic disorder. Although previous patients have been reported, this is the first series, allowing delineation of a clinical subtype of frontonasal dysplasia, paving the way toward the identification of its molecular etiology.

Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Choanal Atresia; Cohort Studies; Craniofacial Abnormalities; Encephalocele; Exome Sequencing; Face; Facial Bones; Female; Heart Defects, Congenital; Humans; Infant; Male; Nose; Phenotype

Congenital nasal anomalies are rare malformations with a broad spectrum of defects. The only existing classification strictly relating to nasal anomalies was presented by Losee et al. (Plast Reconstr Surg 113(2):676-689, 2004). The aim of this paper is to propose some suggestions, based on our current knowledge and experience gained by treating our patients in the clinic, in creating a specification of patients with congenital nasal anomalies. All patients with congenital nose defects treated in our health center were selected for this study. The research was retrospective and included years from 1995 to 2015. Nasal anomaly associated with cleft lip and palate was excluded. Patients were classified into four categories of congenital nasal anomalies, according to Losee et al.. In the period of 20 years, 191 patients with congenital nasal anomalies were treated in our health center. Type 1 defects were found in 124 patients, type 2 in 15, type 3 in 32 and type 4 in 20 patients. The nasal defect accompanying craniofacial syndrome is the most common type of nose malformation. The nose cleft is not always a part of craniofacial clefts; isolated forms of such malformations can occur. Vascular anomalies, due to different etiology, categorization and treatment, should not be recognized as nasal malformation.

Topics: Craniofacial Abnormalities; Humans; Nose; Nose Diseases; Respiratory System Abnormalities; Retrospective Studies

Topics: Craniofacial Abnormalities; Esthetics; Facial Bones; Humans; Nose; Orbit; Osteotomy, Le Fort; Syndrome; Zygoma

Congenital malformations of the nose can be associated with a variety of syndromes, including solitary median maxillary central incisor syndrome, CHARGE syndrome, Bosma syndrome, median cleft face syndrome, PHACES association, Bartsocas-Papas syndrome, Binder syndrome, duplication of the pituitary gland-plus syndrome and syndromic craniosynsotosis (e.g., Apert and Crouzon syndromes) among other craniofacial syndromes. Imaging with CT and MRI plays an important role in characterizing the nasal anomalies as well as the associated brain and cerebrovascular lesions, which can be explained by the intimate developmental relationship between the face and intracranial structures, as well as certain gene mutations. These conditions have characteristic imaging findings, which are reviewed in this article.

Topics: Abnormalities, Multiple; Craniofacial Abnormalities; Humans; Magnetic Resonance Imaging; Nose; Syndrome; Tomography, X-Ray Computed

Topics: Adult; Airway Remodeling; Child; Craniofacial Abnormalities; Disease Progression; Humans; Nasal Obstruction; Nose; Nose Deformities, Acquired; Obesity; Pharynx; Rhinitis; Risk Factors; Sleep Apnea, Obstructive; Trachea

Diprosopus, or partial facial duplication, is a very rare congenital abnormality. It is a rare form of conjoined twins. Partial facial duplication may be symmetric or not and may involve the nose, the maxilla, the mandible, the palate, the tongue and the mouth.. A male newborn springing from inbred parents was admitted at his first day of life for facial deformity. He presented with hypertelorism, 2 eyes, a tendency to nose duplication (flatted large nose, 2 columellae, 2 lateral nostrils separated in the midline by a third deformed hole), two mouths and a duplicated maxilla. Laboratory tests were normal. The cranio-facial CT confirmed the maxillary duplication.. This type of cranio-facial duplication is a rare entity with about 35 reported cases in the literature. Our patient was similar to a rare case of living diprosopus reported by Stiehm in 1972. Diprosopus is often associated with abnormalities of the gastrointestinal tract, the central nervous system, the cardiovascular and respiratory systems and with a high incidence of cleft lip and palate. Surgical treatment consists in the resection of the duplicated components.

Topics: Adolescent; Cleft Lip; Consanguinity; Craniofacial Abnormalities; Face; Female; Humans; Infant, Newborn; Male; Mandible; Maxilla; Morocco; Nose; Pregnancy; Pregnancy in Adolescence; Radiography; Twins, Conjoined

In craniofacial malformations, the nose is variably affected: in its location, its shape or by lack of development. In this short chapter, some of the common problems encountered by the specialized teams are summarized. Craniofacial astronomies can modify the skeleton of the nose during growth, sometime at an early age. However, most rhinoplasties are performed at adulthood. The nasal pyramid may present deformations that produce functional and aesthetics impairment that should be treated when necessary. Respiratory problems should be recognized as early as possible and treated in priority.

Topics: Adolescent; Adult; Cartilage; Child; Craniofacial Abnormalities; Esthetics; Female; Follow-Up Studies; Humans; Imaging, Three-Dimensional; Infant; Nose; Osteotomy, Le Fort; Reoperation; Rhinoplasty; Tomography, X-Ray Computed; Young Adult

Patients with congenital malformations, traumatic or pathological mutilation and maxillofacial developmental disorders can be restored aesthetically and emotionally by the production and use of facial prostheses. The aim of this study was to review the literature about the retention and processing methods of facial prostheses, and discuss their characteristics. A literature review on Medline (PubMed) database was performed by using the keywords "maxillofacial prosthesis, silicone, esin, pigment, cosmetic, prosthetic nose", based on articles published from 1956 to 2010. Several methods of retention, from adhesives to the placement of implants, and different processing methods such as laser, CAD/CAM and rapid prototyping technologies have been reported. There are advantages and disadvantages of each procedure, and none can be classified as better compared to others.

Topics: Adhesives; Computer-Aided Design; Craniofacial Abnormalities; Humans; Maxillofacial Prosthesis; Nasal Surgical Procedures; Nose; Plastic Surgery Procedures; Prosthesis Design; Prosthesis Failure; Prosthesis Implantation; Resins, Synthetic

Given the multiple permutations in craniofacial malformations, classification of median craniofacial dysplasia or midline Tessier no. 0 to 14 clefts has been difficult and disjointed. In this review, the authors present a summary of normal embryology, prior terminology, and their proposed new classification system. Median craniofacial dysplasia has tissue agenesis and holoprosencephaly at one end (the hypoplasias), frontonasal hyperplasia and excessive tissue (the hyperplasias) at the other end, and abnormal splitting or clefting and normal tissue volume (dysraphia) occupying the middle portion of the spectrum. These three distinct subclassifications have different forms of anomalies within their groups.

Topics: Cleft Palate; Craniofacial Abnormalities; Craniofacial Dysostosis; Face; Holoprosencephaly; Humans; Nose; Skull; Terminology as Topic

Extraoral cranial implant-retained prosthetic reconstructions have been proved to be highly successful. Replacement of the eyes, ears, nose, and larger areas including combined midface defects, which frequently have no other option available, has been done successfully. Burn patients and those with congenital defects are good candidates for this type of reconstruction, especially after autogenous attempts have failed. Cranial implant prosthetic reconstruction should be considered as a viable option for difficult craniofacial defects.

Topics: Craniofacial Abnormalities; Ear, External; Face; Humans; Nose; Orbit; Osseointegration; Patient Care Planning; Plastic Surgery Procedures; Prostheses and Implants; Prosthesis Design; Prosthesis Implantation; Skull; Surgery, Computer-Assisted

Frontonasal dysplasia is a severe malformation composed of cranial, ophthalmic, nasal, upper lip, and palatal deformities. Reconstruction in these patients requires complex craniofacial efforts. A 19-year-old woman with frontonasal dysplasia was treated at our institution where she had undergone multiple prior reconstructive surgeries including facial bipartition and cantilevered calvarial bone graft for nasal reconstruction. She later presented with a palpable bone graft prominence, associated contour deformity, and an area of overlying paper-thin skin at the nasal tip. Although there was no ulceration, the threat of graft extrusion required immediate attention. The prominent bone graft tip was debrided, and the overlying soft tissue envelope was augmented using acellular dermal matrix. No surgical complication was encountered. The patient had successful salvage of the bone graft and a pleasing aesthetic outcome at 9 months of follow-up. The use of acellular dermal matrix has proven to be beneficial in the correction of nasal contour deformities given its soft, natural appearance, availability, affordability, and safety. Its use also avoids further donor site morbidity. We suggest acellular dermal matrix as a graft material in revision rhinoplasties for cases of acquired nasal contour deformity and threatened bone graft extrusion. This is the first report known to the authors using acellular dermal matrix during staged nasal reconstruction in a patient experiencing frontonasal dysplasia.

Topics: Biocompatible Materials; Bone Transplantation; Collagen; Congenital Abnormalities; Craniofacial Abnormalities; Dermatologic Surgical Procedures; Face; Female; Follow-Up Studies; Humans; Nose; Nose Deformities, Acquired; Plastic Surgery Procedures; Reoperation; Rhinoplasty; Treatment Outcome; Young Adult

Johanson-Blizzard syndrome is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, deafness, microcephaly, hypothyroidism, absent permanent teeth, malabsorption, and failure to thrive. The literature was reviewed to define the reported spectrum of ocular manifestations, which are not well documented. We found that nasolacrimal system malformations are a common feature of Johanson-Blizzard, whereas intraocular malformations are rare. This report describes the ophthalmologic findings and management of 2 affected children.

Topics: Abnormalities, Multiple; Child; Craniofacial Abnormalities; Female; Humans; Infant, Newborn; Lacrimal Apparatus; Male; Nose

Topics: Body Image; Computer Simulation; Craniofacial Abnormalities; Esthetics; Humans; Motivation; Nasal Bone; Nose; Nose Deformities, Acquired; Patient Satisfaction; Postoperative Complications; Reoperation; Rhinoplasty

After presenting two sisters with the rare form of congenital arrhinia, this syndrome is reviewed, an explanation of the pathogenesis is offered and the therapeutic options of the functional and aesthetic reconstruction are discussed.. In cases of congenital arrhinia different degrees of respiratory distress, cyanotic episodes, and impaired food intake are described. Therefore after birth respiration and food intake need to be monitored to alleviate the situation through intubation or tracheotomy. The following conclusions could be made based on the literature overview. Little is known about the pathophysiology and a great variety of therapeutic interventions and reconstruction solutions with a wide spectrum of complications are described. Due to the numerous forms of complications, which need to be compared with the reconstructive results, indications for surgical reconstruction of the airway and plastic reconstruction of the nose during childhood must be defined very stringently.. One method to achieve a satisfactory plastic result is with an osseointegrated prosthesis. This facial prosthesis can be inserted without complications and can guarantee an adequate result, whereas no impairment of maxillofacial development was noted.

Topics: Adolescent; Anophthalmos; Child; Child, Preschool; Craniofacial Abnormalities; Female; Follow-Up Studies; Genes, Dominant; Humans; Nose; Pedigree; Prosthesis Design; Prosthesis Fitting; Prosthesis Implantation; Surgical Flaps; Tomography, X-Ray Computed

Cerebro-Oculo-Nasal syndrome; a new multiple congenital anomaly/mental retardation syndrome was first reported by Richieri-Costa and Guion-Almeida in 1993 (Am J Med Genet 47:702-706) in two patients. To the best of our knowledge four additional cases have been reported. The main features of the syndrome are anophthalmia/microphthalmia, abnormal nares, and central nervous system anomalies. In this report, an additional sporadic case of this syndrome is presented. A 6-year-old girl from a non-consanguineous couple with normal prenatal growth parameters and retarded postnatal growth had anophthalmia, uplifted right nares with skin tag, and slight clefting at the tip of the nose, upper lip and gingiva. She also had a high-arched narrow palate, slightly low set ears, hypertelorism, a CNS defect and mental retardation. Additional findings were hypoplastic teeth with dental malocclusion, muscular hypotonia and midline hyperpigmentation over the anterior neck and the abdomen.

Topics: Abnormalities, Multiple; Anophthalmos; Brain; Child; Craniofacial Abnormalities; Female; Growth Disorders; Humans; Intellectual Disability; Nose; Syndrome; Tomography, X-Ray Computed

Fronto-facio-nasal dysplasia is a rare cause of facial clefts. The syndrome is characterized by paramedian facial clefts which involve the nose and palpebral fissures resulting in defects of the alae nasi and blepharophimosis, lagophthalmos, and S-shaped palpebral fissures. In addition affected children have ocular malformations such as epibulbar dermoids and colobomata of the iris or optic disk and may have a posterior encephalocele; these features distinguish this condition from fronto-nasal dysplasia and early amnion rupture sequence. We describe a child with unilateral features. Unilateral craniofacial clefts are usually assumed to have a low recurrence risk. However, fronto-facio-nasal dysplasia is an autosomal recessive condition and must be considered in any child with paramedian facial clefts.

Topics: Abnormalities, Multiple; Craniofacial Abnormalities; Encephalocele; Eye Abnormalities; Facial Asymmetry; Genes, Recessive; Humans; Infant, Newborn; Male; Nose; Syndrome

We report an adult male patient born to normal and non-consanguineous parents with midline craniofacial defects associated with branchial arch anomalies. This combination of signs belongs to the oculoauriculofrontonasal spectrum. We compare our case with those previously reported who had similar findings and discuss clinical aspects of the oculoauriculofrontonasal spectrum and frontofacionasal dysplasia.

Topics: Adult; Anophthalmos; Branchial Region; Craniofacial Abnormalities; Ear, External; Female; Humans; Lipomatosis; Male; Nose; Orbital Diseases

Frontonasal malformation (FNM) is a developmental field defect representing abnormal morphogenesis of the frontonasal eminence. The oculoauriculovertebral spectrum (OAVS) has been used to describe a broader range of first and second branchial-arch defects including hemifacial microsomia and Goldenhar's syndrome. A combination of FNM and OAVS has been described in the literature in 13 cases. This condition has been labeled as the oculoauriculofrontonasal syndrome, as well as ophthalmofrontonasal dysplasia. We have evaluated four patients with both FNM and OAVS. The pattern of malformation involves only the craniofacies: they have no vertebral defects, heart disease, or encephaloceles. The categorization of these four individuals and those in the literature raises interesting issues regarding syndrome classification. Originally, it was suggested that perhaps this disorder was a variation of Goldenhar's syndrome. However, now that it has become evident that FNM and OAVS are malformation patterns of etiologic and presumably pathogenetic heterogeneity, a more likely hypothesis is that when these two defects occur together, this represents a unique syndrome pattern. The purpose of this article is to suggest that the combination of OAVS and FNM may be a distinct entity, representing a discreet subset of patients.

Topics: Adolescent; Child, Preschool; Craniofacial Abnormalities; Ear, External; Eyelids; Facial Asymmetry; Female; Frontal Bone; Goldenhar Syndrome; Humans; Male; Nose; Syndrome

Topics: Canada; Craniofacial Abnormalities; Ear, External; Eye, Artificial; Face; Female; Humans; Male; Nose; Nose Deformities, Acquired; Osseointegration; Postoperative Complications; Prostheses and Implants

Proboscis lateralis (PL) is an uncommon congenital facial deformity marked by the protrusion of a primitive tubular structure made up of skin and soft tissue that generally emerges from the eye's medial canthus and is associated with some craniofacial deformities. We report the first case of PL with multiple craniofacial, neurological, cardiac, and spinal anomalies.. A full-term female baby delivered by cesarean section cried immediately at birth. The mother reported having a normal pregnancy but has a history of x-ray during her first trimester. The baby was born with a rare presentation of proboscis lateralis which was accompanied by multiple anomalies, including but not limited to bilateral colpocephaly, corpus callosum agenesis, complex cyanotic congenital heart disease, and hemivertebra of the T10 body.. PL is an uncommon congenital condition that causes a variety of craniofacial abnormalities. Multiple additional defects affecting various organ systems should also be evaluated in a person diagnosed with PL.

Topics: Abnormalities, Multiple; Cesarean Section; Craniofacial Abnormalities; Face; Female; Humans; Infant; Infant, Newborn; Nose; Pregnancy

The aim of this study is to evaluate where exactly children and adolescents of the same group look when they interact with each other, and attempt to record and analyse the data recorded by eye-tracking technology.. 60 subjects participated in the study, evenly divided into three age categories of 20 each in pre-school/primary school age (5-9 years), early adolescence (10-14 years) and late adolescence/transition to adulthood (15-19 years). Age groups were matched and categorized to be used both for creating the picture series and testing. Photographs of patients with both unilateral and bilateral cleft lip and palate were used to create the series of images which consisted of a total of 15 photos, 5 of which were photos of patients with surgically treated cleft deformity and 10 control photos with healthy faces, that were presented in random order. Using the eye-tracking module, the data on "area of first view" (area of initial attention), "area with longest view" (area of sustained attention), "time until view in this area" (time of initial attention) and "frequency of view in each area" (time of sustained attention) were calculated.. Across all groups, there was no significant difference for the individual regions for the parameters of initial attention (area of first view), while the time until first fixation of one of the AOIs (time until view in this area) was significant for all facial regions. A predictable path of the facial scan is abandoned when secondary facial deformities are present and attention is focused more on the region of an existing deformity, which are the nose and mouth regions.. There are significant differences in both male and female participants' viewing of faces with and without secondary cleft deformity. While in the age group of the younger test persons it was still the mouth region that received special attention from the male viewers, this shifted in the male test persons of the middle age group to the nose region, which was fixed significantly more often and faster. In the female participants, the mouth and nose regions were each looked at for twice as long compared to the healthy faces, making both the mouth and the nose region are in the focus of observation.

Topics: Adolescent; Child; Child, Preschool; Cleft Lip; Cleft Palate; Craniofacial Abnormalities; Esthetics, Dental; Eye-Tracking Technology; Female; Humans; Male; Nose; Perception

Proboscis lateralis is a rare craniofacial anomaly characterized by a tubular, trunk-like appendage, often arising from the medial canthal region. It can occur in isolation or in association with a variety of other anomalies. Several treatment options have been described depending on the characteristics of the defect, but due to its infrequency, the body of knowledge is limited. Here, the authors present a case of proboscis lateralis in an 18-month-old girl, being successfully treated with a novel technique including tape elongation and a 1 stage tunneling procedure.

Topics: Craniofacial Abnormalities; Face; Female; Humans; Infant; Lacrimal Apparatus; Nose; Nose Diseases

We report a case of mild frontonasal dysplasia, a complex and rare malformation affecting the central portion of the face, especially the eyes, nose, and forehead, which was diagnosed at 20 weeks of gestation. The diagnosis was made by two- and four-dimensional ultrasound and confirmed at autopsy after pregnancy termination. A review of the literature is presented.

Topics: Adult; Craniofacial Abnormalities; Face; Female; Humans; Nose; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal

To discuss the presentation and management of infants with arhinia or congenital absence of the nose.. This case report describes an infant with arhinia that was diagnosed prenatally. In addition to a discussion of the case, a review of the literature was completed to define appropriate postnatal work-up and management.. The patient is a term male infant, diagnosed with arhinia on ultrasound and magnetic resonance imaging (MRI) performed at 21-weeks gestational age. Upon birth, the patient was subsequently intubated, followed by tracheostomy due to complete nasal obstruction. Through a genetics evaluation, the patient was found to be heterozygous for the SMCHD1 gene, with hypomethylation at the. Arhinia is a rare condition causing respiratory distress in the neonatal period. While stabilization of the airway is the first priority, further management is not clearly defined given the rarity of the malformation. This case discusses stabilization of the airway with a review of treatment and reconstructive options.

Topics: Airway Management; Chromosomal Proteins, Non-Histone; Craniofacial Abnormalities; Disease Management; Humans; Infant, Newborn; Magnetic Resonance Imaging; Male; Mutation, Missense; Nose; Plastic Surgery Procedures; Prenatal Diagnosis; Prostheses and Implants; Tomography, X-Ray Computed; Tracheostomy; Ultrasonography, Prenatal

Oculo-auriculo-fronto-nasal syndrome (OAFNS) is a rare anomaly characterized by features overlapping those of frontonasal dysplasia (FND) and the oculo-auriculo-vertebral spectrum (OAVS). The FND features malformation of frontonasal process-derived structures, characterized by anomalies in the central portion of the face. The OAVS is characterized by developmental anomalies of the first and second pharyngeal arches. The OAFNS is a condition with clinical features of both FND and OAVS.Here, the authors present the case of a male with OAFNS who not only exhibited typical OAFNS symptoms but also a dysplastic bony structure that bridged the anterior nasal spine and inferior nasal bones, and unilateral type 3 Duane retraction syndrome (absence of right-eye abduction). Abnormal nasal bones are characteristic of OAFNS; such abnormalities are absent from FND and OAVS. The authors reduced the dysplastic nasal bony structure via open external rhinoplasty, followed by lateral nasal osteotomy when he was 16 years of age. The nasal dorsum appeared natural after surgery and he was satisfied with the result.

Topics: Adolescent; Craniofacial Abnormalities; Duane Retraction Syndrome; Face; Humans; Hyperplasia; Male; Nasal Bone; Nose

Frontonasal dysplasia (FND) is a congenital malformation of the central portion of the face, including the eyes, nose, and forehead. Owing to its rarity and wide spectrum of phenotypes, the optimal timing and technique of surgery remain controversial. Here, we report a case of a patient with FND, who presented with respiratory distress. The deformed nostrils were so small that the patient could not normally breathe through the nose immediately after birth. Rhinoplasty using a costochondral graft was performed at 16 months of age. After surgery, the nostrils enlarged and the appearance of the nose improved. Although congenital nasal deformity is frequently corrected during adolescence, surgery at an early stage can be considered when important issues are noted, such as inability to breathe through the nose.

Topics: Cartilage; Craniofacial Abnormalities; Face; Humans; Infant; Nose; Rhinoplasty

Congenital nasal cleft is a very rare yet challenging deformity to reconstruct. Atypical craniofacial clefts that involve the nasal ala are designated as number 1 and number 2 under the Tessier classification system. These clefts typically present as notches in the medial one-third of either nasal ala and may be accompanied by a malpositioned cartilaginous framework. Nasal clefts are smaller and far less common than familiar clefts of the lip and palate, but they pose equally challenging reconstructive planning.. Our described technique relies on usage of existing nasal tissue near the cleft. Local tissue rearrangement using a laterally based rotational alar flap, a medially based triangular flap, and a nasal wall advancement flap restores normal anatomy and provides an aesthetically pleasing result.. Five children with isolated nasal cleft were treated by the senior author (A.M.) between 2010 and 2017. All patients presented with clefts of the soft tissue with no underlying cartilaginous involvement. There were no postoperative complications. Excellent aesthetic outcome was achieved in all patients.. Isolated nasal cleft can be properly corrected with the described procedure in a single stage and with optimal result.

Topics: Child; Child, Preschool; Craniofacial Abnormalities; Esthetics; Female; Humans; Male; Nasal Cartilages; Nose; Plastic Surgery Procedures; Quality of Life; Rare Diseases; Retrospective Studies; Sampling Studies; Surgical Flaps; Treatment Outcome; Wound Healing

Median and paramedian craniofacial clefts are associated with hypertelorism, anterior encephalocele, positional abnormalities of the maxilla, and nasal deformity. Cleft lip and palate, eyelid coloboma, and widow's peak are frequently present.. The authors collected data from 30 patients (mean age, 5.8 years; range, 4 months to 18 years) operated between 1986 and 2017 with median or paramedian craniofacial clefts of differing degrees of severity. Malformations of the different anatomic units and their surgical treatment were assessed, as well as complication rates.. All patients presented nasal malformations and either telecanthus (n = 16) or hypertelorism (n = 14). Most patients (n = 23) had anterior encephalocele. All patients underwent nasal corrections, and most of them had medial canthopexy (n = 24). Excision of encephalocele was associated with fronto-orbital remodeling. Medialization of the orbits was performed in 11 patients, mainly by box shift (n = 9). Patients from outside Switzerland (n = 23) were operated at an older age than those in the native patient group. Because of staged reconstruction, 13 patients had more than one operation. Surgical complications included three infections and one expander exposition. One patient had bone resorption of a frontal bone flap. Nasal correction needed more than one procedure in 5 patients, and medial canthopexy had to be repeated in 7 patients. Esthetic results were satisfactory, permitting social integration.. Median and paramedian craniofacial clefts need adapted and carefully planned corrections respecting the growth of anatomic units. The quality of the medial canthal and nasal reconstruction is to a large extent responsible for the overall result.

Topics: Adolescent; Child; Child, Preschool; Craniofacial Abnormalities; Encephalocele; Female; Humans; Infant; Male; Nose; Plastic Surgery Procedures

Topics: Cleft Lip; Cleft Palate; Continuous Positive Airway Pressure; Craniofacial Abnormalities; Head Protective Devices; Humans; Infant, Newborn; Male; Nose; Respiratory Insufficiency

To explore a new accurate way for the treatment of congenital midfacial dysplasia in facial cleft patients.. Between November 2015 and November 2016, 8 patients with nasal deformity and midfacial dysplasia (Tessier Nos. 3-11 cleft) were collected (median age, years; range = 15-20 years). Expanded frontal flap for nasal reconstruction and image-guided navigation-assisted surgery for modified nasal-maxillary-hard palatine osteotomy to advance the peri-pyriform bone structure were performed in all the patients. After 6 to 12 months of follow-up, the authors analyzed the differences between preoperative planning and postoperative results through computed tomography data.. Patients were satisfied with surgery, and computed tomography data showed that there was little difference between preoperative planning and postoperative results with the navigation-assisted surgery.. Using expanded frontal flap with navigation-assisted surgery for peri-pyriform advancement, the authors could treat congenital nasal deformity and midfacial dysplasia effectively, accurately, and safely in craniofacial cleft patients.

Topics: Adolescent; Adult; Craniofacial Abnormalities; Dysostoses; Facial Bones; Humans; Nose; Surgery, Computer-Assisted; Surgical Flaps; Tomography, X-Ray Computed; Young Adult

Topics: Adolescent; Anesthesia, General; Catheters; Child, Preschool; Craniofacial Abnormalities; Female; Humans; Intubation, Intratracheal; Laryngoscopy; Male; Nose; Orthognathic Surgery

Many types of surgical osteotomies of the cranio-facial skeleton relay on adequate surgical field preparation. Placement and stabilization of nasotracheal tube during orthognathic surgery is very important. In most cases, long-lasting surgery includes various surgical maneuvers around patient's skull, which depend on accurate nasotracheal tube stabilization. Usage of adhesive plasters for heavy anesthetic tube connector placement and stability might result in tube instability and local disfigurement of nasal projection and visibility in the nasal and infraorbital areas. We present a novel technique for nasotracheal tube stabilization allowing each surgeon controlling tube position, visual evaluation of nasal projection, and its tip during various surgical movements of maxillary bone, such as extrusion, intrusion, rotation or others, during Le Fort I osteotomy. Despite additional time necessary for preparation of surgical field, attachment of the tube and suturing, presented method allows achieving very satisfactory final outcomes with visible access to key nasal structures important in Le Fort I osteotomy. Presented method could be also used in any other facial surgery procedure.

Topics: Adolescent; Adult; Craniofacial Abnormalities; Female; Humans; Intubation, Intratracheal; Male; Nose; Orthognathic Surgery; Osteotomy, Le Fort; Suture Techniques; Trachea

Craniofacial clefts are rare entities, with an incidence reported as 1.43 to 4.85 per 100,000 births. The Tessier number 3 cleft, the most medial of the oblique clefts, can manifest as clefting of the lip between the canine and lateral incisors, colobomas of the nasal ala and lower eyelid, and inferior displacement of the medial canthus-frequently disrupting the lacrimal system with extreme variability in expressivity (Eppley).Literature on cleft lip repair is extensive and has evolved to incorporate anthropometric techniques, based on identifiable landmarks and anthropometric measurements that are compared with contralateral unaffected anatomy or population means and tracked over time to assess impact on growth. Recent focus has been placed on "subunit" repair that repairs "like with like." These approaches have resulted in a remarkable reproducibility of methods and outcomes.Facial cleft surgery publications are sparse due to the rarity of the disorders, and consensus has yet to develop on standardized landmarks, reference measurements, and principles of repair. The authors describe a method of correcting incomplete unilateral Tessier 3 cleft based on the principles described above. Intraoperative photographs, including secondary revisions, as well as immediate and long-term postoperative results are presented.

Topics: Abnormalities, Multiple; Anthropometry; Child; Child, Preschool; Cleft Lip; Coloboma; Craniofacial Abnormalities; Eyelids; Humans; Infant; Male; Nose; Plastic Surgery Procedures; Treatment Outcome

Topics: Continuous Positive Airway Pressure; Craniofacial Abnormalities; Humans; Nasal Obstruction; Nose; Oxygen; Patient Compliance; Sleep Apnea, Obstructive

It is widely accepted that there is a relationship between the cranial base and the development of the nasomaxillary complex (NMC). The objective of the present study was to investigate the morphological relationship between these two anatomical units in skulls that have intentionally been subjected to one of two types of artificial deformity of the cranial vault [artificially deformed skulls (ADS)].. A geometric morphometry study was performed on lateral cephalometric X-rays of three groups of crania: 32 with anteroposterior (AP) deformity, 17 with circumferential (C) deformity, and 39 with no apparent deformity.. The cranial base of the ADS showed marked deformity that produced a restriction of AP growth of the NMC, alterations of the roof of the orbit as a consequence of the rotation of anterior cranial fossa, and nasal protrusion. Pronounced morphological differences were found between the three groups: increased vertical development of the maxilla occurred in both ADS groups due to growth of the alveolar process, and rotation of the maxilla and displacement of the orbital rim was observed in the C group. This confirms that the posterior facial plane is regarded as an axial structure that serves as an interface between the middle cranial base and the NMC (Enlow, D.H. and Hans, M.G. (1996) Essential of Facial Growth. WB Saunders Co., Philadelphia, PA).. It is important to take into account that these results have been obtained from an archaeological sample, with all the limitations that this implies such as being a small sample and with no absolute certainty regarding the use of the same type of deforming device within each group. Furthermore, this is a lateral two-dimensional study in which transverse development has not been analysed.. Artificial modification of the shape of the vault has repercussions on the NMC that support the theory of an all-inclusive integration of the different cranial units in normal as well as in restricted development.

Topics: Alveolar Process; Anatomic Landmarks; Cephalometry; Cranial Fossa, Middle; Craniofacial Abnormalities; Humans; Maxilla; Maxillofacial Development; Nose; Occipital Bone; Orbit; Paleopathology; Pterygopalatine Fossa; Rotation; Skull Base; Vertical Dimension

Inspiratory flow limitation (IFL) is defined as a "flattened shape" of inspiratory airflow contour detected by nasal cannula pressure during sleep and can indicate increased upper airway resistance especially in mild sleep-related breathing disorders (SRBD). The objective of this study was to investigate the association between upper airway abnormalities and IFL in patients with mild SRBD.. This study was derived from a general population study consisting of selected individuals with apnea-hypopnea index (AHI) below 5 events/h of sleep, ("no obstructive sleep apnea" group) and individuals with AHI between 5 and 15 events/h ("mild obstructive sleep apnea" group). A total of 754 individuals were divided into four groups: group 1: AHI <5/h and <30 % of total sleep time (TST) with IFL (515 individuals), group 2: AHI <5/h and >30 % of TST with IFL (46 individuals), group 3: AHI: 5-15/h and <30 % of TST with IFL (168 individuals), and group 4: AHI: 5-15/h and >30 % of TST with IFL (25 individuals).. Individuals with complains of oral breathing demonstrated a risk 2.7-fold larger of being group 4 compared with group 3. Abnormal nasal structure increased the chances of being in group 4 3.2-fold in comparison to group 1. Individuals with voluminous lateral wall demonstrated a risk 4.2-fold larger of being group 4 compared with group 3.. More than 30 % of TST with IFL detected in sleep studies was associated with nasal and palatal anatomical abnormalities in mild SRBD patients.

Topics: Adult; Aged; Aged, 80 and over; Airway Resistance; Brazil; Catheterization; Craniofacial Abnormalities; Female; Humans; Inhalation; Lung; Male; Middle Aged; Nose; Palate; Polysomnography; Respiratory Function Tests; Risk Factors; Severity of Illness Index; Sleep; Sleep Apnea Syndromes; Time Factors; Young Adult

Craniofacial clefts are extremely rare congenital anomalies, the importance of which lies in their great range of variety of anatomic forms and their complex management. Proboscis is one of the rare cases of this kind in which half of the nose is separated from the face and it is only pedicled on the right or left medial canthal regions by a nose-like, rudimentary tubular structure. This article reports the case of a 3-month-old infant with left-sided proboscis. Left lower eyelid coloboma was also present. The proboscis was treated with local flaps at the age of 3 months, and at the age of 10 months the coloboma was managed.

Topics: Coloboma; Craniofacial Abnormalities; Esthetics; Eyelids; Female; Follow-Up Studies; Free Tissue Flaps; Humans; Infant; Male; Nose; Rhinoplasty; Surgical Flaps

Patients with nasomaxillary hypoplasia have severe facial concavity and compromised skeletal class III malocclusion. Its treatment is still a challenge to surgeons. Our aim was to evaluate the combination of midfacial distraction and orthognathic surgery in the treatment of nasomaxillary hypoplasia. Four patients with nasomaxillary hypoplasia were enrolled in this study. After Le Fort II osteotomy, the rotational distraction of nasomaxillary complex was performed to rehabilitate facial convexity. Then bilateral sagittal split ramus osteotomy with or without Le Fort I osteotomy was used to correct malocclusion. All patients healed uneventfully, and the maxillae moved forward conspicuously. No obvious pain and severe discomfort were complained during distraction. A significant advancement and downward movement of the maxilla were shown by cephalometric analysis. The combination of midfacial distraction and orthognathic surgery provides us an ideal alternative in the treatment of nasomaxillary hypoplasia.

Topics: Adolescent; Adult; Craniofacial Abnormalities; Dental Implants; Female; Humans; Male; Malocclusion, Angle Class III; Maxilla; Nose; Orthognathic Surgical Procedures; Osteogenesis, Distraction; Osteotomy, Le Fort; Osteotomy, Sagittal Split Ramus; Treatment Outcome; Young Adult

Here we report a case of a Tessier number 14 cleft, the rarest form of craniofacial cleft, and our step-wise approach to its surgical correction. The patient's appearance was analyzed over a 20-year follow-up period. At the fourth and final operation, the interorbital distance was reduced, the maxilla was advanced, rib and costal cartilage were grafted for augmentation of the nasal bone, and a double eyelid fold operation was performed. Although the surgical results were not entirely satisfactory from an esthetic point of view, this step-wise surgical approach has allowed gradual improvement in the patient's facial appearance.

Topics: Blepharoplasty; Bone Transplantation; Cartilage; Cephalometry; Child, Preschool; Craniofacial Abnormalities; Craniotomy; Esthetics; Eyelids; Female; Follow-Up Studies; Frontal Bone; Humans; Maxilla; Nose; Orbit; Osteogenesis, Distraction; Osteotomy; Osteotomy, Le Fort; Plastic Surgery Procedures; Rhinoplasty

Distraction osteogenesis with an external distraction device such as the rigid external distraction (RED) frame has become an established method for treating midface hypoplasia. It allows for greater advancement of the midface than achievable with traditional Le Fort III osteotomies; however, there are a number of problems associated with frame application such as pin site migration and need for frame removal. We present 2 cases of the novel use of the RED frame, in both a pediatric patient and an adult patient. The RED frame was used to achieve table soft tissue distraction, greater than previously achievable with traditional Le Fort III osteotomy. This was then combined with acute bone grafting, allowing the RED frame to be removed intraoperatively and thereby removing the complications associated with long-term frame application. We believe this to be the first reported use of the RED frame for acute on-table distraction of the midface. This has allowed far greater advancement of the midface than would be achievable with traditional Le Fort III advancement but, when combined with autologous bone grafting, has allowed intraoperative removal of the frame, thus negating some of the complications of long-term distraction osteogenesis using the RED frame.

Topics: Acrocephalosyndactylia; Adolescent; Adult; Autografts; Bone Transplantation; Craniofacial Abnormalities; Craniofacial Dysostosis; External Fixators; Female; Follow-Up Studies; Humans; Male; Maxilla; Nose; Orbit; Osteogenesis, Distraction; Osteotomy, Le Fort; Zygoma

The aim of this paper is to report a case of a patient with paramedian bilateral facial clefts and hypertelorism associated with a severe encephalocele and micro-orbit. The patient required a facial bipartition to correct a transsphenoidal encephalocele, and a modified medialization surgery of the orbits to simultaneously expand the micro-orbit and correct the hypertelorism. These procedures achieved hypertelorbitism correction, orbital expansion which allowed symmetrical facial growth, and a functional orbit that permitted the use of an ocular prosthesis. We present this unique case to highlight the predictable results of a procedure that combines 2 surgical reproducible techniques of craniofacial surgery.

Topics: Craniofacial Abnormalities; Encephalocele; Eye, Artificial; Female; Follow-Up Studies; Frontal Bone; Humans; Hypertelorism; Infant, Newborn; Microphthalmos; Nose; Orbit; Osteotomy; Plastic Surgery Procedures; Sphenoid Bone

Tessier cleft types 3 and 4 are both rare craniofacial anomalies. Here we present the first case of a girl born with a combined anomaly of Tessier clefts 3 and 4 with severe bilateral cleft lip, a displaced premaxilla, and three-dimensional underdevelopment of the hard and soft tissues of the maxilla and zygoma. This type of rare facial cleft poses a major operative challenge. Over a period of years, presurgical alveolar molding with an active appliance was followed by seven operations. A satisfactory esthetic outcome was obtained. A multidisciplinary approach to treatment with a plastic surgeon in charge of the operations and an orthodontist in charge of the cleft deformity is essential.

Topics: Activator Appliances; Alveolar Process; Bone Transplantation; Cleft Lip; Cleft Palate; Craniofacial Abnormalities; Esthetics, Dental; Female; Follow-Up Studies; Humans; Infant, Newborn; Maxilla; Nose; Orbit; Palatal Obturators; Plastic Surgery Procedures; Surgical Flaps; Treatment Outcome; Zygoma

The Tessier 3 cleft is one of the rarest congenital craniofacial clefts, which often extends through the upper lip, the alar groove and the medial canthus. Only a few cases have been reported. There is no standardized method for the surgical treatment for this condition in the literature, and to obtain an acceptable outcome is difficult. A Uighur girl with severe bilateral Tessier 3 clefts and associated orofacial deformities is described here, and a novel protocol for clefts of this severity and rarity is presented. This study focuses particularly on describing the surgical procedures and techniques. Further treatments required for the cleft-associated deformities during later growth and developmental stages are also discussed in detail.

Topics: Alveolar Process; Cleft Lip; Cleft Palate; Craniofacial Abnormalities; Esthetics; Eyelids; Facial Muscles; Female; Follow-Up Studies; Humans; Infant; Nose; Orbit; Patient Care Team; Plastic Surgery Procedures; Surgical Flaps; Treatment Outcome

Topics: Abnormalities, Multiple; Child; Craniofacial Abnormalities; Diagnosis, Differential; Female; Finger Phalanges; Fingers; Hair; Hair Diseases; Humans; Langer-Giedion Syndrome; Nails, Malformed; Nose

Gorlin-Chaudhry-Moss syndrome (OMIM 233500) is a rare congenital malformation syndrome with the cardinal manifestations of craniofacial dysostosis, hypertrichosis, underdeveloped genitalia, ocular, and dental anomalies. Since 1960, only six affected individuals have been reported. We report a 4-year and 6-month-old female patient with this phenotype and review the clinical presentation of all patients known so far. Previously unreported malformations of the extremities, larynx, and nose are also described, expanding the phenotype of this rare syndrome. Array-CGH analysis did not show pathological deletions or duplications.

Topics: Abnormalities, Multiple; Child, Preschool; Chromosomes, Human, Pair 12; Craniofacial Abnormalities; DNA Copy Number Variations; Ductus Arteriosus, Patent; Female; Growth Disorders; Hand Deformities, Congenital; Humans; Hypertrichosis; Infant; Larynx; Nose; Phenotype; Progeria; Toes

Frontonasal dysplasia is an unusual congenital condition with a wide phenotypic range. Because of this, only a small number of cases and their management have been reported in the literature. The ideal surgical procedures to correct mild cases of frontonasal dysplasia, and the time to perform them, are still controversial. The case of a 9-month-old girl with a mild form of this condition (a congenital bifid nose and a duplicated frenulum), and its surgical management, is presented. The surgery achieved an early improvement of the patient's appearance and she had no complications. In the future, it is probable that she will need secondary rhinoplasty to aid in the projection of the tip and refine the shape of the nose.

Topics: Craniofacial Abnormalities; Face; Female; Humans; Infant, Newborn; Nose; Nose Diseases

This paper reviewed the outcome of cantilevered costochondral grafts used for dorsal nasal augmentation in the management of patients treated at the Australian Craniofacial Unit (ACFU), Adelaide over a 29-year period.. All patients undergoing dorsal nasal augmentation with costochondral grafts as part of their craniofacial management between 1981 and 2009 were identified using the ACFU database, and their medical notes were reviewed.. 107 patients (50 M, 57 F), with a mean age of 12.3 years (range: 2-62 years) and requiring a total of 150 costochondral grafts, were identified from the departmental database. Mean follow-up after nasal augmentation was 5.6 years (1 month-31.5 years). 46% of the patients were diagnosed with Binder syndrome/Chondrodysplasia punctata; other diagnoses included Tessier midline clefts, cleft lip and palate and frontonasal dysplasia. A dorsal midline incision (49%) was the commonest method of access, with 84% of patients having mini-screw fixation for graft stabilisation. Complications included screw palpability, infection, skin necrosis and graft fracture. The commonest reasons for a replacement graft were graft atrophy and fracture, infection and persistent deformity.. Cantilevered nasal costochondral grafting is an excellent technique for improving nasal contour and function in a wide variety of clinical situations.

Topics: Adolescent; Adult; Atrophy; Cartilage; Child; Child, Preschool; Cleft Lip; Cleft Palate; Craniofacial Abnormalities; Face; Female; Humans; Male; Maxilla; Maxillofacial Abnormalities; Middle Aged; Nose; Reoperation; Rhinoplasty; Ribs; Time Factors; Young Adult

We observe an annual augmentation of rhinoplasties to patients with migration background. This article illustrates the special features of the design and procedure of the operation considering the ethnic factors.. We present a review of patients with Middle Eastern origin, their nasal characteristics, their psychological specificities, specific expectations and some surgical concepts referring to a selective literature review.. The Middle Eastern nose with a few exceptions offers a combination of specific characteristics. This requires detailed discussions and a thorough preoperative evaluation. More-over, both the psychological specificities and the expectations of patients should not be disregarded. The treatment of patients with a Middle Eastern background requires a particular empathy. In addition to the anatomic characteristics, expectations, role models and the ethnic behaviour in the pre- and postoperative period must all be considered. In the expectations of the patients the surgeons should be familiar with the Middle Eastern role models. The possibilities and the surgical limits can be discussed in detail with the patient and unrealistic expectations should be avoided.. The increased mix of ethnic groups requires a new approach to aesthetic rhinoplasty, which aims primarily to provide individual solutions. Middle Eastern noses represent one of the most demanding challenges in rhinoplasty which lead to dramatic changes and to deeply grateful patients for which a lot of experience is required. Therefore the surgeon has to be highly specialised in Middle Eastern Nose rhinoplasty.

Topics: Adult; Craniofacial Abnormalities; Emigrants and Immigrants; Esthetics; Ethnicity; Female; Germany; Humans; Male; Middle East; Nose; Patient Education as Topic; Patient Satisfaction; Rhinoplasty; Specialization; Young Adult

To assess the prevalence of periodontal disease, orofacial changes and craniofacial abnormalities in patients with thalassemia major (TM). Dental management is discussed. The sample consisted of 54 patients with TM, 31 males and 23 females aged 5.5 to 18.3 years, with the mean age (+/- SD) of 1.6 +/- 3.2 years. The sample was divided into two subgroups according to age. A similar number of unaffected control group matched by age and sex served as a control. Clinical and radiographic examinations were carried out to assess the prevalence of changes caused by this disorder. Student's t-test was used to compare the means between thalassemic group and the control group. The Chi-square test was employed to determine statistical differences in frequencies between the two groups.. Poor oral hygiene and gingivitis were observed in 61.1% and 43.0% of the thalassemic patients, respectively. The overall mean plaque score was 1.66 +/- 0.51 and gingival score 1.43 +/- 0.59. In all tested periodontal parameters, a higher frequency and severity were noted in the thalassemic patients compared with controls. More than half of the patients exhibited frontal bossing, saddle nose and to less extent maxillary protrusion; giving in severe cases (16.7%) a "chipmunk" like appearance. Dental discoloration and pallor oral mucosa were noted in 44.4% and 38.9%, respectively. Dental/jaw pain was reported by 40.0% and headache by 29.6% of the patients. Increased overjet was evident in 25.9% of the patients. The majority of the patients had thickened frontal bone (66.7%), and thinned inferior border of the mandible (64.6%). Widened dipolic spaces and spiky roots and were observed in one-third of the patients. The ramus length and width in the patients were significantly smaller than in controls (P < 0.001).. TM may particularly diagnose through orofacial abnormalities. Dentists required understanding the complications and management of the disease.

Topics: Adolescent; beta-Thalassemia; Case-Control Studies; Cephalometry; Child; Child, Preschool; Craniofacial Abnormalities; Dental Plaque Index; Facial Pain; Female; Frontal Bone; Gingivitis; Headache; Humans; Jordan; Male; Mandible; Maxilla; Nose; Oral Hygiene Index; Overbite; Periodontal Diseases; Periodontal Index; Prevalence; Tooth Discoloration; Tooth Diseases

In traditional Le Fort III distraction, the transport segment is advanced en bloc without addressing differences in the relative retrusion of the facial structure. The authors describe three methods for correcting these asymmetries with differential facial advancement.. Eight patients (age range, 4 to 20 years) with asymmetric facial hypoplasia were treated by Le Fort III midface distraction using an external device. Two patients with nasal bone hypoplasia exceeding midface retrusion were treated with nasal passenger grafts at the time of osteotomy. Two patients with asymmetric rotational midface deformities underwent wire cerclage swing advancement of the affected side to achieve differential advancement. Four patients with central nasomaxillary retrusion exceeding zygomatic retrusion underwent segmental Le Fort III osteotomy with simultaneous zygoma repositioning and Le Fort II distraction.. Differential midface advancement was achieved in all patients. Midface distraction and nasal passenger grafts resolved obstructive sleep apnea, improved globe protection, and improved fit of prescription glasses. After Le Fort III swing advancement, the centric relation and malar asymmetry were corrected with differential advances of 10 and 15 mm compared with the unaffected side. In the segmental osteotomy Le Fort III group, the central face was distracted independently of the zygoma repositioning, thus correcting the shortened retruded central midface without distorting the orbitomalar relationship and improving airway obstruction, anterior open bite, short nose, and proptosis.. Midface distraction techniques have evolved to include the principles of segmentation, graft augmentation, and controlled rotation. The benefits of gradual distraction can be realized without compromising the aesthetic and functional result.

Topics: Adolescent; Bone Wires; Child; Child, Preschool; Craniofacial Abnormalities; External Fixators; Facial Asymmetry; Female; Follow-Up Studies; Humans; Male; Nose; Osteogenesis, Distraction; Osteotomy, Le Fort; Rhinoplasty; Treatment Outcome; Young Adult

Williams-Beuren syndrome is a rare congenital disorder involving the cardiovascular system, mental retardation, distinctive facial features, and tooth anomalies. The aim of the present report is to show a 10-year-old girl with Williams-Beuren syndrome, her general and orofacial clinical characteristics and the dental management.

Topics: Child; Craniofacial Abnormalities; Dental Enamel Hypoplasia; Female; Humans; Hypertelorism; Lip; Malocclusion; Nose; Retrognathia; Tooth Abnormalities; Williams Syndrome

Chondrocutaneous (ChC) grafts have been used for nasal alar reconstruction for years. One of the consequences for using these grafts is the restriction in dimensions. In this study, we presented our results in which ChC grafts bigger than 20 mm in length have been used in conjunction with a dermal turnover flap for full-thickness alar subunit defects. Technical details and results of 8 alar subunits reconstructions in 8 patients were evaluated. Follow-up period ranged from 10 to 27 months, with a mean of 18.3 months. We achieved satisfactory results without partial or total graft failure. Finally, surgeons can safely use outsized ChC composite grafts with this type of design, for successful alar subunit reconstruction.

Topics: Adolescent; Adult; Aged; Burns; Cartilage; Child, Preschool; Craniofacial Abnormalities; Female; Humans; Male; Nose; Rhinoplasty; Skin Transplantation; Surgical Flaps; Suture Techniques; Treatment Outcome

Median facial clefts are reconstructive challenges, requiring multiple operations throughout life. Long-term results are often still far from ideal and could be improved. Due to surgical intervention and diminished intrinsic growth potential, surgical results may change from initially good into a progressively disappointing outcome. If, however, the ideal timing and type of surgery are known, in combination with the intrinsic growth potential, the results can be ameliorated. A guideline for surgical treatment is given.. Twenty patients with a pure symmetrical median cleft were evaluated on intermediate and long-term surgical results. The final result was scored based on severity of the initial and the remaining facial deformities, and the need for revisional surgery.. The long-term surgical outcome was initially good for each of the affected facial parts and the face in general, but worsened over time, especially in the zone of the nose. An adequate and stable result of hypertelorism correction was observed for both the orbital box osteotomy and medial faciotomy, even when performed at a young age.. The intrinsic growth restriction is mainly localised in the central midface. This leads to a complex and often unpredictable growth of the maturing face. It makes it difficult to achieve perfect reconstructions. Caution with surgical interventions of the nose at a young age is required. Once the face has matured, a midface advancement and secondary nose correction should be considered for satisfactory projection. Early referral to a specialised centre is essential.

Topics: Adolescent; Adult; Bone Transplantation; Child; Child, Preschool; Craniofacial Abnormalities; Female; Humans; Male; Middle Aged; Nose; Plastic Surgery Procedures; Time Factors; Young Adult

The trichorhinophalangeal syndrome (TRPS) is a hereditary, skeletal dysplasia which has a characteristic clinical presentation and is classified in types 1, 2 and 3, based on phenotype and genotype. Typical findings may be mild and many patients probably remain undiagnosed.. The paper is based on four case reports and provides a short review of the condition.. Our four patients all have typical facial features, such as a large nose and thin upper lip, thin hair and short curved fingers with characteristic radiological findings. The condition is autosomal dominant and caused by a mutation in the TRPS1 gene, which codes a gene-regulating protein involved in development of hair and modulation of chondrocytes. The diagnosis can be based on clinical findings, but DNA-analysis can be of help in unclear situations. Two of our patients were diagnosed from clinical and radiological findings, but for the two others genetic examinations were done as well. There is no causal treatment, but the diagnosis can give patients an explanation of their problems, and genetic counseling for the patient and family can be offered. Orthopedic surgery and cosmetic aids are valuable for many.. In an increasingly technified medical daily life, the clinical view is still the most important tool in diagnosing patients with this condition.

Topics: Abnormalities, Multiple; Adolescent; Child; Child, Preschool; Craniofacial Abnormalities; Female; Fingers; Genetic Counseling; Hair Diseases; Hand Deformities, Congenital; Humans; Hypotrichosis; Langer-Giedion Syndrome; Nose

Topics: Brain; Craniofacial Abnormalities; Eye Abnormalities; Fatal Outcome; Humans; Image Processing, Computer-Assisted; Imaging, Three-Dimensional; India; Infant, Newborn; Magnetic Resonance Imaging; Male; Mouth Abnormalities; Nose; Tomography, Spiral Computed; Twins, Conjoined

A very rare case of proboscis lateralis is reported. This case is different from previously reported cases due to proboscis lateralis, single nostril, loss of columella, and median cleft lip without holoprosencephaly. In addition, this is considered the first surviving individual with proboscis lateralis accompanied by median cleft lip.

Topics: Cleft Lip; Cleft Palate; Craniofacial Abnormalities; Female; Follow-Up Studies; Humans; Infant; Nasal Bone; Nasal Septum; Nose; Plastic Surgery Procedures; Rhinoplasty; Surgical Flaps; Turbinates

We report on two unrelated Brazilian boys with craniofacial anomalies that involve the frontonasal process and the first branchial arch associated with pericallosal lipoma. To our knowledge this condition seems to have been reported only once previously, but may represent a new condition within the group of the frontonasal dysgenesis. Clinical and imaging data, phenotypic evolution, and differential diagnosis are discussed.

Topics: Adult; Branchial Region; Craniofacial Abnormalities; Female; Frontal Bone; Humans; Infant, Newborn; Lipoma; Male; Nose; Young Adult

Nasal reconstruction has key functional aims of achieving an optimal esthetic result while maintaining a patent airway. For the distal third of the nose, these goals are achieved by replacement of lining, osseocartilaginous support, and soft tissue coverage. The use of skin tags for reconstruction of the ear have been well documented, yet to our knowledge, there are no reported cases of their use in reconstruction of the nose. Skin tags, also referred to as acrochordon, fibroepithelial polyps, and pedunculated fibromas are benign soft, fleshy, sessile, or pedunculated lesions ranging from 1 to 5 mm in diameter. We report a novel approach to distal nasal reconstruction that arose opportunistically as a result of coincident pathologies.

Topics: Cartilage; Craniofacial Abnormalities; Eyelids; Female; Humans; Infant, Newborn; Nose; Plastic Surgery Procedures; Skin Neoplasms; Skin Transplantation

Facial disfigurement in children with congenital craniofacial defects can lead to decreased self-esteem and poor self-perception. Traditional methods of reconstruction can fail to achieve a normal appearance in patients with severe disfigurements. Composite tissue allotransplantation (CTA) in children could offer a unique reconstructive opportunity. A discussion of the usage of CTA for congenital craniofacial defects is thus warranted. Treatment of severe craniofacial clefts, Treacher-Collins syndrome, hemifacial microsomia, and some vascular anomalies can yield unsatisfactory results, even after multiple surgeries. CTA provides the advantage of intact vascularized bone that would not need to be reshaped to fit the defect, with the correct donor match. CTA also provides reconstruction with similar tissue type in regions of the central midface such as the nose, lips, and eyelids. With advances in transplant immunology to devise mechanisms to decrease immunosuppression and induce donor antigen-specific tolerance, CTA may be a future reality in the pediatric population.

Topics: Child; Cleft Lip; Cleft Palate; Craniofacial Abnormalities; Craniosynostoses; Facial Asymmetry; Facial Transplantation; Humans; Immune Tolerance; Immunosuppression Therapy; Mandibulofacial Dysostosis; Nose; Plastic Surgery Procedures; Tissue Transplantation; Transplantation, Homologous

Epitheses, also known as craniofacial prostheses, are artificial substitutes for facial defects. The breakthrough for rehabilitation of facial defects with implant retained epitheses came with the development of the modern silicones and bone anchorage. After the discovery of the osseointegration of titanium in the 1960s, dental implants have been made of titanium. In 1977, the first extraoral titanium implant was inserted in a patient. Later, various solitary extraoral implant systems have been developed. Besides, grouped implant systems have been developed, which may be placed more reliably in areas with low bone offering, as in the nasal and orbital region, or the ideally pneumatised mastoid process. Today, even large facial epitheses may be securely retained. The classical atraumatic surgical technique has remained an unchanged prerequisite for successful implantation of any system. This review outlines the basic principles of osseointegration as well as the main features of extraoral implantology.

Topics: Biocompatible Materials; Bone Plates; Bone Screws; Craniofacial Abnormalities; Ear, External; Esthetics; Eye, Artificial; Face; Facial Neoplasms; Humans; Nose; Orbit; Osseointegration; Prosthesis Design; Prosthesis Implantation; Radiation Injuries; Suture Anchors; Titanium

Topics: Child, Preschool; Chromosomes, Human, Pair 9; Comparative Genomic Hybridization; Craniofacial Abnormalities; Eye Abnormalities; Frontal Bone; Humans; Male; Monosomy; Nose; Radiography

The Arrhinias consist of three groups of malformations: the Total Arrhinias (T-AR), the Hemi-Arrhinias (H-AR, often called Hemi-Nasal Ageneses) and the Proboscis Lateralis (P.L.) This work deals with 51 cases of Arrhinias gathered within 35 years (8 T-AR, 25 H-AR, and 18 P.L): their anatomy, clinical signs, and some indications for treatment; but it does not extend to a discussion for their etiopathology. However, the T-AR and the H-AR represent ageneses, whereas the P.L represents a dysgenesis. The anomalies common to the three groups of Arrhinias are many: the agenesis of the nasal bones, the telecanthus which is often in contrast to the hypo-telorbitism, the obstruction of the naso-lacrimal passage, the ectasia of the lacrimal sac with an erosion of the inferomedial angle of the orbit, the hypopneumatization of the maxillary sinus and a small maxilla, the unerrupted canines, the flattened fronto-nasal process, the obliteration of the cribriform plate, the dysplasia in the root of the eyebrows, the transverse hypoplasia of the upper lip, the frequency of microphthalmia, colobomas of the iris and nystagmus. Cleft lip and palate are frequently associated with the Arrhinias (see Table I) and also other facial malformations, but in different proportions, according to groups. They are: cryptophtalmias, eyelid coloboma, fronto-orbital encephalocele, agenesis of the premaxilla or prolabium, microtia. (See Table II) The basic principles of the treatment are the following: In the T-AR, a nasal passage should initially be bored through the maxilla, or there should be a displacement of the two halves of the mid-face by a procedure known as "facial bipartition". This nasal passage should be epithelialized and maintained wide open to the pharynx until the nasal construction. In the H-AR, it is sufficient to create an epithelialized passage through the curtain of bone where one would expect the pyriform rim to be and carry this passage through the septum into the contralateral nasal airway. Then, regardless of the type of arrhinia, the nasal construction is carried out with a forehead flap and bone grafts. The first grafts are either iliac or tibial, and subsequent ones are generally outer table calvarial grafts harvested from the parietal region. Later, there are further procedures: a maxillary advancement, a lengthening of the central midface, the final stages of the nasal construction, the elevation of the medial canthus, and the restoration of the infero-medial a

Topics: Abnormalities, Multiple; Adolescent; Child; Child, Preschool; Cleft Lip; Craniofacial Abnormalities; Ethmoid Bone; Female; Humans; Infant; Male; Maxillary Sinus; Nose; Nose Diseases; Orbit; Plastic Surgery Procedures; Prognosis; Radiography; Surgical Flaps; Treatment Outcome

The clinical ability to alter dentofacial form requires an understanding of facial aesthetics. This is vital for any clinician involved in treatment that will alter a patient's dentofacial appearance, whether through orthodontics, facial growth modification, corrective jaw surgery or aesthetic dentistry. Part 1 of this article covered the historical and theoretical aspects of facial aesthetics and their importance in contemporary dentofacial treatment. Part 2 covers important aspects of the interview and clinical assessment of patients requiring alterations in their dentofacial appearance, including guidelines used in the assessment of facial proportions and symmetry.. These articles cover the theoretical and clinical aspects of facial aesthetics required by clinicians involved in the treatment of dentofacial deformity.

Topics: Attitude to Health; Cephalometry; Chin; Craniofacial Abnormalities; Esthetics, Dental; Face; Facial Asymmetry; Humans; Incisor; Jaw Abnormalities; Lip; Mandible; Maxilla; Motivation; Nose; Patient Care Planning

Proboscis lateralis is a rare spontaneous congenital anomaly that results from a failure of normal embryological nasal development. The ensuing deformity consists of imbrication of the nasal soft tissues into a tubelike proboscis and can be associated with ipsilateral heminasal aplasia, choanal atresia, and multiple other abnormalities. A case report of a patient with proboscis lateralis is presented, with a 27-year follow-up detailing the complexities of long-term surgical management. After 15 major surgical interventions, there is relatively normal facial symmetry, but abnormalities remain with the underlying craniofacial skeleton and nasopharyngeal airway. Proboscis lateralis is not an isolated soft tissue abnormality but is a craniofacial defect that requires a long-term multidisciplinary approach to the surgical timing and treatment with lifelong follow-up.

Topics: Coloboma; Craniofacial Abnormalities; Dacryocystorhinostomy; Eyelids; Facial Asymmetry; Female; Humans; Infant, Newborn; Lacrimal Apparatus; Nasal Cavity; Nose; Plastic Surgery Procedures; Treatment Outcome

The Tessier classification is the current standard for identifying and reporting rare craniofacial clefts. This numerically based system describes 16 different primary clefts, with additional possible combinations that can significantly raise the total number of potentially describable clefts. Problems with this system include a complexity that requires most surgeons to consult a diagram to describe the location of a cleft. In addition, the Tessier classification can include conditions that may not actually involve a true cleft such as frontonasal dysplasia, Treacher Collins syndrome, and craniofacial microsomia. A surgically based classification is proposed that includes only true clefts (eliminating hyperplasias, hypoplasias, and aplasias) and classifies these rare anomalies into 1 of 4 types based on anatomic regions: midline, median, orbital, and lateral. This simplified classification for craniofacial clefts, which is based on a different surgical paradigm appropriate to each regional location, enables surgeons to describe an observed cleft in such a way that others can easily visualize the location and have a starting point for formulating treatment decisions.

Topics: Craniofacial Abnormalities; Facial Bones; Frontal Bone; Humans; Hyperplasia; Lip; Mandible; Maxilla; Nose; Orbit; Patient Care Planning; Plastic Surgery Procedures

The prosthetic rehabilitation is a surgical alternative in functional-aesthetic facial reconstruction when the conventional reconstructive surgery cannot be applied either because of the psychophysical conditions of the patient or because of an excessive substance loss. From May 2002, 35 facial prosthesis (111 implants) have been positioned. Defects were congenital (N = 12), consequent to trauma (N = 8) and to demolitive surgery for malignant tumors (N= 8), and infection (N = 7). In 4 patients, implants were placed in previously irradiated areas. A total of 111 titanium implants were placed to support 21 auricular prostheses (bilateral in 2 cases), 4 orbital prostheses, 8 nasal prostheses, and 2 complex midfacial prostheses. Implant failure was observed for 2 of the 3 implants placed to support a nasal epithesis in a patient with hepatitis C virus, with an important parodontal disease, who experienced a postinfective necrosis of the nose after a liver transplantation; it was necessary to place an adhesive prosthesis. An implant failure was also observed in a diabetic patient with an extensive midfacial defects due to a mycotic infection, but it did not compromise the retention of the prosthesis. According to our experience, the indication to epithesis is when the conventional reconstructive interventions is inapplicable.

Topics: Adult; Aged; Craniofacial Abnormalities; Diabetes Complications; Ear Auricle; Face; Female; Head and Neck Neoplasms; Hepatitis C; Humans; Liver Transplantation; Male; Maxillofacial Injuries; Maxillofacial Prosthesis Implantation; Middle Aged; Mycoses; Nose; Opportunistic Infections; Orbital Implants; Periodontal Diseases; Prosthesis Design; Prosthesis Failure; Prosthesis Implantation; Surgical Wound Infection; Titanium

Floating-Harbor syndrome is a rare disorder which is clinically characterized by short stature, retarded speech development, delayed bone ages, triangular face, bulbous nose and thin lips. We described two cases with Floating-Harbor syndrome and briefly reviewed the relevant literature.

Topics: Abnormalities, Multiple; Child, Preschool; Craniofacial Abnormalities; Diagnosis, Differential; Dwarfism; Face; Facial Bones; Female; Fingers; Hearing Loss; Heart Septal Defects, Ventricular; Humans; Infant; Intellectual Disability; Male; Mouth Abnormalities; Nose; Pulmonary Valve Stenosis; Speech Disorders; Syndrome

Although a role for early developmental disturbance(s) in schizophrenia is postulated, it has proved difficult to identify hard, biological evidence. The brain and face emerge in embryologic intimacy, such that in neurodevelopmental disorders, brain dysmorphogenesis is accompanied by facial dysmorphogenesis.. Three-dimensional (3D) laser surface imaging was used to capture the facial surface of patients and control subjects in 37 male and 32 female patients who satisfied DSM-IV criteria for schizophrenia in comparison with 58 male and 34 female control subjects. Surface images were analyzed using geometric morphometrics and 3D visualizations to identify domains of facial shape that distinguish patients from control subjects.. Both male and, particularly, female patients evidenced significant facial dysmorphology. There was narrowing and reduction of the mid to lower face and frontonasal prominences, including reduced width and posterior displacement of the mouth, lips, and chin; increased width of the upper face, mandible, and skull base, with lateral displacement of the cheeks, eyes, and orbits; and anterior displacement of the superior margins of the orbits.. The frontonasal prominence, which enjoys the most intimate embryologic relationship with the anterior brain and also orchestrates aspects of development in maxillary and mandibular domains, evidences a characteristic topography of dysmorphogenesis in schizophrenia.

Topics: Adult; Cephalometry; Craniofacial Abnormalities; Diagnostic Imaging; Female; Humans; Image Processing, Computer-Assisted; Imaging, Three-Dimensional; Lasers; Male; Middle Aged; Nose; Reference Values; Schizophrenia; Sex Factors

A group of syndromes, consisting of Malpuech syndrome, Michels syndrome, Carnevale syndrome, OSA syndrome, and Mingarelli syndrome share the combination of symptoms of highly arched eyebrows, ptosis, and hypertelorism, and vary in other symptoms such as asymmetry of the skull, eyelid, and anterior chamber anomalies, clefting of lip and palate, umbilical anomalies, and growth and cognitive development. It has been suggested that they are in fact part of the same entity. Here, we describe a brother and sister with the same constellation of symptoms, and compare these with the various entities. We conclude that the present patients resemble most patients with Carnevale and Mingarelli syndrome, and the case reported by Guion-Almeida, and that these patients form together most probably the same entity. We suggest the name Carnevale syndrome as this author described this combination of symptoms for the first time. Malpuech and Michels syndromes are probably separate entities, although they may still be allelic. Pattern of inheritance of Carnevale syndrome is most likely autosomal recessive.

Topics: Abnormalities, Multiple; Blepharoptosis; Bone Diseases; Child, Preschool; Cleft Lip; Cleft Palate; Craniofacial Abnormalities; Craniosynostoses; Eyelids; Face; Female; Genes, Recessive; Humans; Hypertelorism; Male; Nose; Radiography; Skull; Syndrome; Torticollis; Urogenital Abnormalities

Anterior craniofacial duplication (diprosopus) is an extremely rare form of conjoined twins. The children share a single trunk with normal extremities and varying degrees of facial malformation. Duplication of specific structures, such as the nose (diprosopus dirrhinus), eyes (diprosopus tetraophthalmus), and ears, is possible. The authors present a case of partial facial duplication (diprosopus dirrhinus) in a male infant.. The clinical and radiographic findings and the surgical correction and follow-up are described.. In a single surgical session, the authors were able to achieve not only a functionally but also an aesthetically acceptable result. In the postoperative course, the child showed nearly normal growth and satisfactory psychosocial and motor development. However, 40 months postoperatively, we noticed a tendency of the orbitae to diverge (i.e., toward hypertelorism).. The surgical management of complex craniofacial malformations such as diprosopus needs a precise morphologic analysis of the patient's deformity followed by a clear treatment plan. A staged reconstructive approach is carried out to coincide with facial growth patterns and brain and eye function. If the interorbital distance in our patient increases progressively, a second operation for reduction of the interorbital distance may be necessary.

Topics: Craniofacial Abnormalities; Facial Bones; Humans; Infant; Male; Nose; Osteotomy; Plastic Surgery Procedures

Topics: Abortion, Eugenic; Adolescent; Antidepressive Agents, Second-Generation; Citalopram; Craniofacial Abnormalities; Female; Humans; Nose; Pregnancy; Pregnancy Trimester, Second; Ultrasonography, Prenatal

Morning glory disc anomaly (MGDA) is a rare congenital malformation of the optic disc, which can be associated with midline craniofacial abnormalities, such as basal encephalocele. A female neonate presented with MGDA in the right eye, pendular nystagmus, hypertelorism, a flattened nasal root and cleft lip and palate. MRI revealed a basal encephalocele, agenesis of the corpus callosum and ventricular enlargement. MGDA combined with midline facial clefting should always lead to the suspicion of a basal encephalocele.

Topics: Abnormalities, Multiple; Cleft Lip; Cleft Palate; Craniofacial Abnormalities; Humans; Infant; Male; Nose; Optic Disk

In contrast to the common clefts of the lip, alveolus and palate, the atypical clefts of the face may come in myriad patterns of clinical expression and are often not easy to define.. In this report, a case of median craniofacial dysraphia is described.. At presentation, the 3-month-old male patient had a bilateral complete cleft of the lip, alveolus and palate. The nose was wide and a horn was present on the nasal dorsum. 3-D CT AND MRI REVEALED: Duplication of the metopic suture ending at the wide anterior fontanel; orbital hypertelorism; midline cranial cleft ending just superior to the nasal dorsum; frontoethmoidal encephalocoele and holoprosencephaly. The presence of two metopic sutures was confirmed during surgery.. The presented case carries the characteristics of the median cleft face syndrome. However, it differs from similar cases in two respects. First, the patient had two metopic sutures, one on either side of the cranial extension of the median cleft. Second, the patient had a bilateral cleft lip in contrast to the expected median cleft lip deformity.

Topics: Cerebellum; Cleft Lip; Cleft Palate; Cranial Sutures; Craniofacial Abnormalities; Encephalocele; Holoprosencephaly; Humans; Hypertelorism; Infant; Male; Muscle Spasticity; Nose; Radiography; Syndrome

Antley-Bixler syndrome (ABS) is characterized by craniofacial dysmorphism and radiohumeral synostosis with other associated anomalies. Prior studies have commonly described the entirety of the syndrome or the genetic abnormalities underlying the syndrome, however, no study has specifically addressed the otologic findings of ABS. We present a case of ABS, specifically focusing on the otologic ramifications of the disease, and provide recommendations for approaching the otologic management of these complex patients.

Topics: Abnormalities, Multiple; Child; Craniofacial Abnormalities; Ear; Female; Fractures, Bone; Humans; Humerus; Nose; Radius; Skull; Syndrome; Synostosis; Tomography, X-Ray Computed

Frontonasal dysplasia is etiologically heterogeneous and various subsets are known. Pai syndrome is one subset, which is characterized by mild hypertelorism, midline cleft lip, nasal and facial polyps, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report seven South American patients and review earlier reported cases. The phenotype is clinically variable and five reported patients were severely affected. The cause of Pai syndrome is unknown to date. Several literature findings have been noted: nondiagnostic and discordant minor signs in a parent of two separate families with an affected child; discordant phenotype in monozygotic twins in one instance; and a de novo reciprocal translocation, 46,X,t(X;16)(q28;q11.2) in one instance.

Topics: Abnormalities, Multiple; Brain; Child; Child, Preschool; Cleft Lip; Craniofacial Abnormalities; Facial Bones; Facies; Female; Humans; Hypertelorism; Infant; Magnetic Resonance Imaging; Male; Nose; Syndrome; Translocation, Genetic

Here, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance.

Topics: Abnormalities, Multiple; Adolescent; Adult; Craniofacial Abnormalities; Facies; Family Health; Female; Foot; Genes, Dominant; Hand; Humans; Intellectual Disability; Language; Learning Disabilities; Marfan Syndrome; Nose; Syndrome

The repair of a craniofacial or nose deformity requires a large volume of reconstructive material. A conventional cartilage graft does not provide a sufficient volume of reconstructive material. Therefore, augmentation of the facial form to the defect shape is quite difficult. The authors developed a new treatment method that provides a sufficiently large volume of reconstructive material and enables an easier reconstruction of the original shape.. Ages of the patients ranged between 9 and 63 years. Approximately 1 cm of auricular cartilage was collected from the auricular concha. Isolated chondrocytes were cultured with autologous serum that accelerates cell proliferation. The cells were subcultured and formed a gel-form mass. This mass, together with autologous serum, was grafted (injected) on the periosteum and into the subcutaneous pocket. The volume of grafted cultured chondrocytes ranged from 1.7 to 40 cc (1 to 5 x 10(7) cells/cc). The lesion changed from soft gel form into hard cartilage tissues within 2 to 3 weeks and stabilized.. Excellent or good satisfactory results were obtained in all patients and have been maintained for periods ranging from 3 to 34 months. No patient experienced absorption of cultured chondrocytes. Biopsy of the newly formed tissues showed that it was an elastic cartilage derived from the original tissue.. A small number of chondrocytes obtained from a 1-cm auricular cartilage are successfully cultured into a large number of cells in a gel form. Those autologous auricular chondrocytes in a gel form allow for the repair of complicated shapes of the defect area. This technique is applicable to various treatments for craniofacial or nose deformity.

Topics: Adolescent; Adult; Biopsy; Cell Culture Techniques; Cells, Cultured; Child; Chin; Chondrocytes; Craniofacial Abnormalities; Device Removal; Ear, External; Elasticity; Facial Injuries; Female; Gels; Humans; Male; Middle Aged; Nose; Plastic Surgery Procedures; Prostheses and Implants; Serum; Skull; Tissue and Organ Harvesting; Transplantation, Autologous; Treatment Outcome

Twenty-four patients were evaluated to better characterize neurological and neuroradiological aspects of midline facial defects with ocular hypertelorism.. After a clinical genetics evaluation, the individuals were divided into two groups: 12 isolated cases (group 1) and 12 associated with multiple congenital anomalies (group 2). The investigation protocol included medical and family history, as well as dysmorphological, neurological, and neuroradiological evaluations by magnetic resonance imaging or computed tomography scan.. Because there was no significant difference concerning the neurological aspects of groups 1 and 2, they were analyzed together. Mild hypotonia (24 of 24), abnormalities in cranial shape (24 of 24), cranial nerves (19 of 24), motor coordination (18 of 24), dynamic equilibrium (14 of 24), and language problems (8 of 24) were noted. Measurements of the posterior fossa showed hypoplastic cerebellar vermis (8 of 17), the cerebellum at lower normality limits (5 of 17), and signs of cerebellar hypoplasia (3 of 7).. This study clearly demonstrates the presence of structural and functional neurological abnormalities related to midline facial defects with ocular hypertelorism, as well as involvement of the cerebellum. It provides a basis for future investigation of midline facial defects with ocular hypertelorism and should be considered during planning of rehabilitation treatment.

Topics: Adolescent; Adult; Cerebellar Diseases; Cerebellum; Child; Child, Preschool; Craniofacial Abnormalities; Female; Frontal Bone; Humans; Hypertelorism; Magnetic Resonance Imaging; Male; Movement Disorders; Neurologic Examination; Nose; Syndrome; Tomography, X-Ray Computed

A German Fleckvieh calf was diagnosed with cyclopia in shape of united eye sockets in one orbit. However, two fully developed eye balls were present while the nostril was not developed. The malformed calf was inbred on a bull used for artificial insemination (AI) with an inbreeding coefficient of 3.125%. Teratogenic plant alkaloids were unlikely to be responsible for the malformation of this calf. Neither in the five progeny of the dam nor in the descendants of the AI-bull with a total of 8083 calvings, calves with such anomalies were found.

Topics: Animals; Animals, Newborn; Cattle; Craniofacial Abnormalities; Eye Abnormalities; Fatal Outcome; Female; Inbreeding; Nose; Orbit

We report on a child with midline facial defects with hypertelorism (MFDH), median cleft lip, sphenoidal ventriculocele, partial agenesis of the corpus callosum, and low-grade astrocytoma in the cervicomedullary junction. This combination of findings has not been reported previously. Although this association might be casual, it demonstrates a relationship between disorders of frontonasal process and posterior fossae. It also suggests that individuals with MFDH might require a prospective follow-up with central nervous system magnetic resonance imaging.

Topics: Agenesis of Corpus Callosum; Astrocytoma; Brain Neoplasms; Child, Preschool; Cleft Lip; Craniofacial Abnormalities; Encephalocele; Follow-Up Studies; Humans; Hypertelorism; Magnetic Resonance Imaging; Male; Nose; Sphenoid Sinus

The surgical correction of craniofacial clefts is an extremely difficult field in pediatric plastic surgery. Facial clefts are rare entities that most plastic surgeons will rarely have to manage. Various surgical techniques devised by some authors for facial clefts have not still widely accepted. The bifid nose deformity is generally an indicator of Tessier No:0 clefts, with various degrees of skeletal problems. The nasal roof area is an important key point in determining the appropriate surgical technique for reconstruction. In this report, a case of Tessier No:0 with a moderate nasal bifidity and ours novel surgical repair technique combining oral and nasal incision are presented.

Topics: Child; Craniofacial Abnormalities; Female; Humans; Nasal Bone; Nasal Septum; Nose; Radiography

There is no article in the literature correlating only craniofacial abnormalities in twins. Since 1985 the Tygerberg Craniofacial Unit has treated nine pairs of twins. In this retrospective study, the authors correlate the craniofacial and systemic anomalies with the specific twin type.. The frequency of human twinning varies from 1 in 30 to 1 in 150 pregnancies. These can be monozygotic (MZ) or dizygotic (DZ). Monozygotic or identical twins occur when a single ovum is fertilized, so the twins possess an identical set of nuclear genes. DZ twins result from the fertilization of two separate ova.. Of the nine sets of twins, six were MZ (identical) and three DZ. Twelve patients presented with craniofacial abnormalities (CFA), which ranged from deformational plagiocephaly, scaphocephaly, trigonocephaly, to frontonasal dysplasia. Craniosynostosis was the most common CFA. Associated abnormalities included facial, limb, and cardiac defects.. Twins with CFA are rare. The authors found that MZ twins are affected more and are more likely to have both siblings affected. DZ twins are affected less and are unlikely to have a co-twin affected.

Topics: Abnormalities, Multiple; Craniofacial Abnormalities; Craniosynostoses; Diseases in Twins; Female; Frontal Bone; Humans; Male; Nose; Retrospective Studies; Twins, Dizygotic; Twins, Monozygotic

The main features of median cleft facial syndrome are hypertelorism, cranium bifidum occultum, widow's peak, and midine clefting of the nose, upper lip and palate. Since this pathology was first described in 1967, many cases have been reported in the literature, but none of these reports has addressed oral anomalies in depth.. The authors present the case of a female patient aged 4 years and 7 months who was diagnosed with median cleft facial syndrome. In this case, the patient had an abnormal number of teeth, owing to fusion or agenesis of teeth, supernumerary teeth and ectopic eruption of some teeth. These oral anomalies had not been described before in the literature as being associated with this syndrome.. Median cleft facial syndrome is a rare pathology; however, dentists should know its possible alterations at an oral level, because children with this syndrome need dental treatment to achieve good esthetics and correct occlusion.

Topics: Anodontia; Child, Preschool; Craniofacial Abnormalities; Female; Fused Teeth; Humans; Hypertelorism; Nose; Syndrome; Tooth Eruption, Ectopic; Tooth, Supernumerary

The study was carried out on 69 mentally challenged individuals. They were subjected to detailed clinical evaluation for dentofacial abnormalities and oral health status. Of the 69 mentally handicapped individuals 27 had Downs syndrome and 42 had cerebral palsy. Characteristic facial abnormalities were seen in children with Downs syndrome. In cerebral palsy, fracture maxillary anteriors were more evident. All the Downs syndrome cases had abnormal TMJ movements but in cerebral palsy only 35.7% of individuals had abnormal TMJ movements. In both the groups, submandibular lymph adenopathy was reported. Present study revealed dental caries in 56.0% of the individuals. Fair clinical level of oral hygiene in 60% of the individuals was seen.

Topics: Adolescent; Cerebral Palsy; Child; Craniofacial Abnormalities; Dental Caries; Disabled Children; Down Syndrome; Health Status; Humans; Hypertelorism; Incisor; Lymphatic Diseases; Malocclusion; Nose; Oral Health; Oral Hygiene; Palate, Hard; Persons with Mental Disabilities; Speech Disorders; Temporomandibular Joint Disorders; Tooth Abnormalities

How to use the orbitonasolabial flap in vascular island thanks to his pedicle based an angular vessel. An anatomic study based on 11 cadavers allows to check the existence of a constant pedicle. This flap was used on 6 patients aged 62 to 90 years old on an average period of 16 months to fill up jugular, orbital, nasolabial and inner canthal defects. Two complications have occurred, a superficial necrosis of the lower part of the flap having spontaneously healed and an ectropion on a senile part. It has been necessary to degrease a second time in 50% of the cases. Nevertheless, the flap can be considered reliable and able to cover tissue defect in the central facial region with minor aesthetic and functional sequel on the donor site.

Topics: Aged; Aged, 80 and over; Cadaver; Craniofacial Abnormalities; Facial Injuries; Female; Humans; Lip; Male; Nose; Orbit; Plastic Surgery Procedures; Surgical Flaps

Cebocephaly is a very rare congenital anomaly combining a severe midline facial malformation and holoprosencephaly. Here we report on first case of cebocephaly with semilobar holoprosencephaly, hypotelorism, and a single nostril due to intrauterine TORCH infection (Toxoplasmosis, other [syphilis, varicella-zoster, parvovirus B19], Rubella, Cytomegalovirus [CMV], and Herpes infections) in the English language literature. Chromosomal analysis showed normal karyotyping.

Topics: Abnormalities, Multiple; Adult; Craniofacial Abnormalities; Cytomegalovirus Infections; Fatal Outcome; Female; Herpes Simplex; Holoprosencephaly; Humans; Infant, Newborn; Karyotyping; Male; Microcephaly; Nose; Pregnancy; Pregnancy Complications, Infectious; Rubella; Tomography, X-Ray Computed

The OMENS syndrome involves craniofacial maldevelopment of the orbit, ear cranial nerve and soft tissue, while OMENS-plus syndrome also includes extracraniofacial anomalies. These may be skeletal, cardiovascular, gastrointestinal, pulmonary, renal and central nervous system malformations. A fourteen-year-old girl presented with hemifacial microsomia, digital abnormalities and pancreatitis. She was diagnosed as O1M2E0N2S1--plus syndrome. Investigations revealed a type Ic choledochal cyst. The latter has not been reported as a gastrointestinal association earlier in literature to the best of the authors' knowledge.

Topics: Abnormalities, Multiple; Adolescent; Craniofacial Abnormalities; Facial Asymmetry; Female; Fingers; Humans; Mouth Abnormalities; Nose; Syndrome; Toes

Topics: Craniofacial Abnormalities; Female; Humans; Infant, Newborn; Nose

Topics: Child; Cleft Lip; Craniofacial Abnormalities; Female; Frontal Bone; Humans; Hypertelorism; Nose; Plastic Surgery Procedures; Radiography

To examine the three-dimensional morphology of internal structures of the craniofacial region and present the orthodontic problems in an unusual case with nasal aplasia.. The patient was an 11.5-year-old boy with aplasia of the nose and nasal cavity with extremely constricted nasopharyngeal airway. He did not have mental or somatic retardation. The patient had dacryostenosis. The morphology of the craniofacial structures was characterized by absence of septal structures, including cribriform plate, perpendicular plate of ethmoid bone, vomer, and septal cartilage; bony hypotelorism; midface hypoplasia; short and retrognathic maxilla with Class III jaw relationship; average mandibular plane angle; high arched palate; severe anterior open bite with bilateral posterior crossbites; and dental anomalies (agenesis of four maxillary permanent teeth, microdontia, taurodontism, and short roots). Thus, the patient had characteristic dentofacial phenotype, which might be caused by a combination of the primary anomaly and the functional disturbances secondary to the nasal obstruction.

Topics: Cephalometry; Child; Craniofacial Abnormalities; Humans; Male; Malocclusion; Mouth Breathing; Nasal Cavity; Nose; Tomography, X-Ray Computed; Tooth Abnormalities

Craniofrontonasal syndrome (CFNS) is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia and coronal craniosynostosis (fusion of the coronal sutures); in males, hypertelorism is the only typical manifestation. Here, we show that the classical female CFNS phenotype is caused by heterozygous loss-of-function mutations in EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases. In mice, the orthologous Efnb1 gene is expressed in the frontonasal neural crest and demarcates the position of the future coronal suture. Although EFNB1 is X-inactivated, we did not observe markedly skewed X-inactivation in either blood or cranial periosteum from females with CFNS, indicating that lack of ephrin-B1 does not compromise cell viability in these tissues. We propose that in heterozygous females, patchwork loss of ephrin-B1 disturbs tissue boundary formation at the developing coronal suture, whereas in males deficient in ephrin-B1, an alternative mechanism maintains the normal boundary. This is the only known mutation in the ephrin/Eph receptor signaling system in humans and provides clues to the biogenesis of craniosynostosis.

Topics: Agenesis of Corpus Callosum; Amino Acid Sequence; Animals; Base Sequence; Chromosomes, Human, X; Cleft Lip; Cleft Palate; Cranial Sutures; Craniofacial Abnormalities; DNA; DNA Mutational Analysis; Dosage Compensation, Genetic; Ephrin-B1; Female; Genetic Linkage; Humans; Hypertelorism; Male; Mice; Molecular Sequence Data; Mutation; Nose; Pedigree; Sequence Homology, Amino Acid; Syndrome; Thumb

Endogenous retinoids are important for patterning many aspects of the embryo including the branchial arches and frontonasal region of the embryonic face. The nasal placodes express retinaldehyde dehydrogenase-3 (RALDH3) and thus retinoids from the placode are a potential patterning influence on the developing face. We have carried out experiments that have used Citral, a RALDH antagonist, to address the function of retinoid signaling from the nasal pit in a whole embryo model. When Citral-soaked beads were implanted into the nasal pit of stage 20 chicken embryos, the result was a specific loss of derivatives from the lateral nasal prominences. Providing exogenous retinoic acid residue development of the beak demonstrating that most Citral-induced defects were produced by the specific blocking of RA synthesis. The mechanism of Citral effects was a specific increase in programmed cell death on the lateral (lateral nasal prominence) but not the medial side (frontonasal mass) of the nasal pit. Gene expression studies were focused on the Bone Morphogenetic Protein (BMP) pathway, which has a well-established role in programmed cell death. Unexpectedly, blocking RA synthesis decreased rather than increased Msx1, Msx2, and Bmp4 expression. We also examined cell survival genes, the most relevant of which was Fgf8, which is expressed around the nasal pit and in the frontonasal mass. We found that Fgf8 was not initially expressed along the lateral side of the nasal pit at the start of our experiments, whereas it was expressed on the medial side. Citral prevented upregulation of Fgf8 along the lateral edge and this may have contributed to the specific increase in programmed cell death in the lateral nasal prominence. Consistent with this idea, exogenous FGF8 was able to prevent cell death, rescue most of the morphological defects and was able to prevent a decrease in retinoic acid receptorbeta (Rarbeta) expression caused by Citral. Together, our results demonstrate that endogenous retinoids act upstream of FGF8 and the balance of these two factors is critical for regulating programmed cell death and morphogenesis in the face. In addition, our data suggest a novel role for endogenous retinoids from the nasal pit in controlling the precise downregulation of FGF in the center of the frontonasal mass observed during normal vertebrate development.

Topics: Acyclic Monoterpenes; Animals; Body Patterning; Bone and Bones; Bone Morphogenetic Protein 4; Bone Morphogenetic Proteins; Cell Death; Chick Embryo; Craniofacial Abnormalities; Embryo, Mammalian; Embryo, Nonmammalian; Embryonic Structures; Face; Fibroblast Growth Factor 8; Fibroblast Growth Factors; Gene Expression Regulation, Developmental; Homeodomain Proteins; In Situ Hybridization; In Situ Nick-End Labeling; Monoterpenes; Morphogenesis; MSX1 Transcription Factor; Nose; Receptors, Retinoic Acid; Signal Transduction; Skeleton; Transcription Factors; Tretinoin

Nasolabial morphology was assessed 3-dimensionally in 28 subjects with Down syndrome aged 12-45 years and in 449 sex- and age-matched controls. Subject and reference data were compared by computing z scores and calculating Student's t tests. The nose was significantly smaller (volume, area) in the subjects with Down syndrome than in the reference subjects, and it had a different shape (more flat angle of alar slope, more acute nasal tip angle). The vertical (length of the nasal bridge, height of the nose) and anteroposterior (nasal tip protrusion) dimensions were reduced, while the horizontal dimensions (alar base width, superior and inferior widths of the nostrils) were increased. The lower lip was significantly smaller (volume, area, vermilion height), while the upper lip was larger (area, vermilion height) in the subjects with Down syndrome. The mouth width was also significantly smaller. In conclusion, the analyzed subjects with Down syndrome had a hypoplastic nose and different upper and lower lips than reference, normal subjects.

Topics: Adolescent; Adult; Case-Control Studies; Craniofacial Abnormalities; Down Syndrome; Female; Forehead; Humans; Image Processing, Computer-Assisted; Imaging, Three-Dimensional; Lip; Male; Models, Anatomic; Nose; Reference Values

We report on two unrelated Brazilian boys who have craniofacial and digital anomalies resembling those reported with Teebi hypertelorism syndrome. Additional features such as cleft lip and palate, large uvula, atypical chin and abnormal scapulae were observed.

Topics: Abnormalities, Multiple; Adolescent; Chin; Craniofacial Abnormalities; Humans; Hypertelorism; Male; Nose; Scapula; Syndrome

The adult Brachyrrhine (3H1 Br/+) mouse displays severe midfacial retrognathia, with a "pugnose" external appearance, but information concerning craniofacial morphology of the homozygote (3H1 Br/Br) mutant is lacking. This study characterized craniofacial phenotype and genotypic features of the homozygous condition. Segregation analysis was performed by phenotypic scoring of offspring from 3H1 Br/+ reciprocal matings. Whole-mount staining was undertaken to determine the presence or absence of cranial base structures in newborn and adult mice, while features of cranial base chondrification were examined using light microscopy and type II collagen immunohistochemistry. Karyotype analysis was performed to determine whether gross chromosomal aberrations were present. Finally, microsatellite mapping analysis was undertaken to provide further resolution of the Br locus. Results showed that Br was inherited as an autosomal semidominant feature. 3H1 Br/Br mice consistently lacked a presphenoid (with its lateral projections, including a preoptic root, postoptic root, and lesser wing). Karyotyping did not reveal major gross aberrations; however, microsatellite analysis localized Br to distal mouse chromosome 17 in the vicinity of D17Mit155. These results indicated that 3H1 Br/Br mice show characteristic features of frontonasal dysplasia, including median facial clefting and bifid cranium, as well sphenoidal malformations. Furthermore, this mutant should serve as a useful model for examining mechanisms of frontonasal dysplasia.

Topics: Animals; Chromosome Segregation; Chromosomes; Craniofacial Abnormalities; Female; Frontal Bone; Genetic Linkage; Homozygote; Karyotyping; Male; Mice; Mice, Mutant Strains; Microsatellite Repeats; Morphogenesis; Nose

The purpose of this study was to compare the difference of craniofacial morphology between oral and nasal breathing children, and discover the relationship between respiratory mode and craniofacial morphology.. Using the system for the simultaneous measurement of oral and nasal respiration, 34 oral breathing children and 34 nasal breathing children aged from 11 to 14 years were selected.. Compared with the nasal-breathing children, the oral-breathing children showed apparently vertical growth pattern. The mandibuler plane Angle of oral breathing children is 39.3, which is significant greater than that of nasal breathing children (P < 0.01). The jans, the oral-breathing children had shorter mandibular body, larger gonion angle, retrusive chin and face (P < 0.05). On the other hand, in the sagittal direction, the oral breathing children may display all kinds of skeletal facial types. There is no significant difference between the two groups.. Oral breathing is one of the factors related to the vertical over-development.

Topics: Adolescent; Child; Craniofacial Abnormalities; Facial Bones; Female; Humans; Male; Mandible; Mouth Breathing; Nose; Radiography; Respiration; Respiratory Function Tests; Skull; Statistics as Topic

Spectacle frame selection and dispensing remain significant components of optometry. Occasionally, we encounter patients who are unable to wear conventional spectacles due to abnormalities or deformities following injury and/or surgery to their nose, ears or head. In these cases, spectacle frame fitting may be more complex and customized frame adjustments may be required to account for the anatomical variations. A patient with a microtia (hypoplastic pinna) was fitted with a tailored spectacle frame. The details are presented together with a summary of different frames and modifications available for ears, nose and face abnormalities.

Topics: Adolescent; Craniofacial Abnormalities; Ear, External; Equipment Design; Eyeglasses; Face; Female; Humans; Nose; Prosthesis Fitting

An interesting case of a seven years old boy with a combination of clinical, genetic, radiological, pathologic and dental findings is presented in view of Seckel syndrome literature. General appearance of the patient was characterized by small forehead, posteriorly slanted ears, slightly beaked nose, midfacial hypoplasia very stunted stature with microcephaly. He had borderline mental retardation with normal motor development. Class II dentoskeletal pattern with mild overjet and open bite, congenitally missing permanent teeth, microdontia, enamel hypoplasia, taurodontism and dentinal dysplasia was observed according to the clinical and radiographic examination. In conclusion, Seckel syndrome is not encountered routinely in dental clinics, this case illustrates the importance of dental care in such a rare condition.

Topics: Anodontia; Child; Craniofacial Abnormalities; Dental Enamel Hypoplasia; Dental Pulp Cavity; Dentin Dysplasia; Dwarfism; Ear, External; Forehead; Humans; Intellectual Disability; Male; Malocclusion, Angle Class II; Microcephaly; Nose; Open Bite; Syndrome; Tooth Abnormalities

A 21-month-old Caucasian female with the combination of craniofrontonasal syndrome and a posterolateral defect of the diaphragm (type Bochdalek) is described. This is thought to be a previously undescribed combination. Pedigree analysis is consistent with an X-linked mode of inheritance of the craniofrontonasal syndrome.

Topics: Craniofacial Abnormalities; Female; Hernia, Diaphragmatic; Hernias, Diaphragmatic, Congenital; Humans; Infant; Infant, Newborn; Nose; Syndrome; Tomography, X-Ray Computed

A boy aged 11 years presented with dental pain, several carious teeth and a localized area of acute necrotizing ulcerative gingivitis (ANUG). Developmental absence of the premolar teeth was notable and additional anomalies included mid-facial hypoplasia, mandibular prognathism, transposed teeth and delayed exfoliation of the deciduous teeth. These abnormalities have significant oral, dental, orthodontic and orthognathic implications.

Topics: Anodontia; Bicuspid; Child; Craniofacial Abnormalities; Dental Caries; Gingivitis, Necrotizing Ulcerative; Humans; Male; Maxilla; Nose; Palate; Patient Care Planning; Prognathism; Tooth Eruption, Ectopic; Tooth Exfoliation; Tooth, Deciduous

Topics: Absorbable Implants; Acrocephalosyndactylia; Adolescent; Bone Transplantation; Child; Child, Preschool; Craniofacial Abnormalities; Craniofacial Dysostosis; Craniosynostoses; Facial Bones; Frontal Bone; Humans; Infant; Internal Fixators; Nose; Orbit; Orthognathic Surgical Procedures; Osteotomy; Osteotomy, Le Fort; Parietal Bone; Plastic Surgery Procedures; Sphenoid Bone; Zygoma

The establishment of a tracheal airway with direct laryngoscopy can be either a very difficult or an impossible task in children with congenital or acquired facial malformations. Out of 46 patients categorized as difficult tracheal intubation, fibreoptic laryngoscopy was used successfully in 44 children anaesthetized by mask with sevoflurane and oxygen or by an intravenous infusion of propofol and mask oxygenation. There were two failures (4.3%). One was due to excessive bleeding and secretions produced by the multiple attempts to intubate with direct laryngoscopy and the other failure in a patient with Pierre Robin syndrome and very small nasal passages that precluded the introduction of the endoscope. Fibreoptic laryngoscopy was successful in 37 cases (80.4%) on the first attempt to intubate and in seven (15.2%) on a second or third attempt. We conclude that fibreoptic laryngoscopy in anaesthetized children with difficult anticipated or unanticipated tracheal intubation in trained hands is a safe technique that can be lifesaving. Therefore, we urge all anaesthesia trainees to become proficient in fibreoptic tracheal intubation.

Topics: Adolescent; Anesthesia; Child; Child, Preschool; Craniofacial Abnormalities; Female; Fiber Optic Technology; Humans; Intubation, Intratracheal; Laryngoscopy; Male; Nose

To describe the craniofacial morphology, dentition, and hand maturity in four siblings with Seckel syndrome.. Two boys and two girls, with Seckel syndrome. The children studied showed extreme growth retardation, severe microcephaly, bird-headed profile with receding chin, prominent nose, mental retardation, and extremely delayed skeletal maturation. The growth hormone axis and pituitary thyroid function was normal.. Skeletal and dental development were investigated from radiographic material, and a cephalometric analysis was performed from profile radiographs.. The craniums were remarkably small with an extremely short anterior cranial base (-4.3 to -5.5 standard units) and maxillary length (-3.8 to -4.7 SU). Differences in the morphology of the sella turcica were observed in girls and boys. Tooth maturity progressed normally. Tooth agenesis and tooth malformations were observed. Taurodontic root morphology was observed only in the girls. The approximate skeletal maturity showed retardation from 4 years 3 months to 4 years 11 months. Malformations of the hand-wrist skeleton occurred in the epiphyseal ossification centers of the middle phalangeal bone in the second, third, and fourth finger and in the distal phalangeal bone in the fifth finger. The epiphyseal ossification centers were lacking in the middle and distal phalangeal bones of the fifth finger.. The underlying gene defect in the affected children seemingly affects bone development and growth but not dental maturation and eruption.

Topics: Adolescent; Age Determination by Skeleton; Anodontia; Bone Development; Cephalometry; Child; Chin; Craniofacial Abnormalities; Epiphyses; Female; Fingers; Growth Disorders; Humans; Intellectual Disability; Male; Maxilla; Microcephaly; Nose; Odontogenesis; Sella Turcica; Skull Base; Syndrome; Tooth Abnormalities; Tooth Root; Wrist

Because many patients with velocardiofacial syndrome (VCFS) are first examined by otolaryngologists for ear or speech problems before being diagnosed with VCFS, we describe a series of patients with this genetic disorder, which is associated with multiple anomalies, including velopharyngeal insufficiency, cardiac defects, characteristic facial features, and learning disabilities.. We retrospectively analyzed the medical charts and available nasoendoscopic observations for 35 patients who were diagnosed with VCFS and who had a microscopic deletion in chromosome 22q11 as shown by DNA probe and fluorescence in situ hybridization.. For most patients, the medical chart documented cardiac anomalies, velopharyngeal insufficiency with hypernasal speech, and characteristic facial features including nasal, auricular, craniofacial, and ocular abnormalities. Incidence of middle ear infection with associated conductive hearing loss was also high and necessitated early placement of pressure equalization tubes. Some patients were treated with adenoidectomy for chronic otitis media; consequently, velopharyngeal insufficiency and hypernasal speech worsened. Nasoendoscopic examination as documented in the medical chart showed occult cleft palate, a small adenoid pad, and pulsation in the muscular wall.. Otolaryngologists have an important role in diagnosis and treatment of persons with VCFS and therefore should familiarize themselves with the typical history and most frequent head and neck manifestations of this syndrome.

Topics: Adolescent; Adult; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 22; Cleft Palate; Craniofacial Abnormalities; DNA Probes; Ear, External; Endoscopy; Eye Abnormalities; Female; Hearing Loss, Conductive; Heart Defects, Congenital; Humans; In Situ Hybridization, Fluorescence; Infant; Learning Disabilities; Male; Nose; Otitis Media; Otorhinolaryngologic Diseases; Retrospective Studies; Speech Disorders; Syndrome; Velopharyngeal Insufficiency

We describe an apparently unique disorder, Fronto-Ocular syndrome, present in a mother and her two daughters, and comprising trigonocephaly due to coronal and metopic craniosynostosis, ocular hypotelorism, ocular proptosis and ptosis, epicanthal folds, hypoplastic supraorbital ridges, elevated nasal bridge, thin philtrum, high-arched palate and a narrow bifrontal region. Both daughters have glabellar capillary hemangiomas, a congenital heart defect and mild developmental disabilities. Review of the literature failed to disclose any syndrome with similar findings. It is likely that this disorder represents an autosomal dominant condition, that arose as a new mutation in the mother. Mutational analysis of fibroblast growth factor receptor (FGFR) 1 and FGFR2 failed to identify the molecular basis of the disorder.

Topics: Adult; Child; Child, Preschool; Craniofacial Abnormalities; Craniosynostoses; Developmental Disabilities; Female; Follow-Up Studies; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Male; Nose; Pedigree; Syndrome

We describe the clinical findings and natural history in two unrelated deeply mentally retarded females, now 28 and 20 years old respectively. Both presented prenatal growth retardation and severe postnatal growth retardation. Their craniofacial appearance is distinct with nasal hypoplasia, triangular mouth and thin lips. Both have a cleft palate and a retinal coloboma at the right eye. Motor development is below the age of 1 year with a complex neurological syndrome with axial hypotonia and spastic quadriplegia.

Topics: Abnormalities, Multiple; Cleft Palate; Coloboma; Craniofacial Abnormalities; Facies; Female; Growth Disorders; Humans; Intellectual Disability; Nose; Retina; Syndrome

Topics: Child, Preschool; Craniofacial Abnormalities; Encephalocele; Female; Humans; Hypertelorism; Nose; Plastic Surgery Procedures; Skull

Blepharo-naso-facial syndrome, described by Pashayan et al. (10), is characterized by telecanthus, lateral displacement and stenosis of lacrimal puncta, bulky nose, mask-like facies, trapezoïdal upper lip, torsion dystonia and mental retardation. We report on a family with this rare malformation syndrome, confirming the existence of this syndrome and its dominant inheritance. The proband had a fleshy nose, a prominant nose bridge, an hypoplastic midface, telecanthus with temporal displacement of puncta, lacrimal excretory obstruction. CNS torsion dystonia, increased deep tendon reflexes, Babinski reflexes, poor coordination and joint laxity. The proband's mother, brother and maternal grandfather also showed manifestations of the syndrome. The proband and his brother had delayed developmental milestones. Hearing impairment was present in the proband, his mother and his grandfather but was absent in the proband's brother. The blepharonasofacial syndrome was described by Pashayan et al. (10) in four members of one family, two male and one female sib and their mother. Two other sibs were unaffected. Many of the features of the blepharo-facio-nasal syndrome also occur in other well known syndromes i.e. Waardenburg syndrome. The pedigrees of the family of Pashayan et al. (10) and of our family are compatible with Mendelian dominant inheritance, either autosomal or X-linked. X-linked dominant inheritance cannot be ruled out except by male-to-male transmission, which does not occur in these families. Pashayan et al. (10) suggested that an autosomal gene with variable expressivity appears more likely. More families are needed for defining the transmission of the condition and for mapping the gene involved in the blepharo-naso-facial syndrome.

Topics: Abnormalities, Multiple; Adolescent; Craniofacial Abnormalities; Eye Abnormalities; Female; Humans; Infant; Intellectual Disability; Male; Nose; Pedigree; Syndrome; Waardenburg Syndrome

Topics: Child, Preschool; Craniofacial Abnormalities; Developmental Disabilities; Dwarfism; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Muscle Hypotonia; Nose; Paraplegia; Syndrome

This work presents long term results of rhinopharyngeal desobstructions on nine years old patients. By using several techniques such as: tonsillectomies, adenoïdectomy, adenoïdotonsillectomies, luxation of inferior turbinates, partial turbinectomies or bilateral turbinectomies under endoscopic guidance, and then, following carefully the oral and nasal peak flows for a period as long as one or two years, it becomes obvious that the most efficient desobstruction procedure is accomplished through a combination of E.N.T. rhinopharyngeal procedures, i.e. adenoïdotonsillectomies and inferior turbinectomies under endoscopic guidance. This global E.N.T. procedure is known as "Chimney Sweep". The author demonstrates that tongue behavior is severely affected by rhinopharyngeal obstruction and by the consecutive dysfunction of the upper airway ventilation pattern. Large tongues and normal tongues pushed forward due to enlarged tonsils or adenoïds are also affected by their necessary participation to oral ventilation (mouth breathers). Addition of a selective lingual glossoplasty or a partial glossectomy is sometimes necessary to put the morphogenic function in a proper order during growth and development. All of the above is part of a new pre-orthognathic concept, that helps control growth and development and helps manage orthodontic or orthognathic treatments.

Topics: Adenoidectomy; Airway Obstruction; Child; Craniofacial Abnormalities; Endoscopy; Female; Follow-Up Studies; Glossectomy; Humans; Male; Maxillofacial Development; Mouth; Mouth Breathing; Nasopharyngeal Diseases; Nose; Orthodontics, Corrective; Pulmonary Ventilation; Tongue Habits; Tonsillectomy; Turbinates

Median craniofacial clefts are classified as median facian cleft deformities and are characterized by clefts of the nose involving the skull base. They can be accompanied by hypertelorism and/or encephaloceles. From a total of 22 of our patients with median deformities, three encephaloceles and two severe median nasal clefts with hypertelorism were considered in 2- to-8-year-olds. Two children with severe brain deformities died before the commencement of therapy. The remaining median deformities were corrected as soon as possible, whereby exclusively soft-tissue surgery was performed during the first year of life and in no case later than school admittance. Final corrections on the nasal skeleton were made after the age of 12. No growth disturbances of the middle face or jaw occurred subsequent to craniotomies and corrections of hypertelorism. Plate osteosynthesis has proven to be the most reliable method of stabilization; we removed the osteosynthetic material in all cases. The multiplicity of possible deformities requires that procedures be tailored to the individual case.

Topics: Adolescent; Adult; Child; Child, Preschool; Cleft Lip; Craniofacial Abnormalities; Encephalocele; Female; Follow-Up Studies; Humans; Hypertelorism; Male; Nose; Skull Base; Treatment Outcome

The Johanson-Blizzard syndrome is a rare autosomal recessive syndrome with ectodermal dysplasia. ENT findings in the syndrome include profound bilateral hearing loss, aplasia of the alae nasi and dental malformations. To date approximately 30 cases have been described.. We report our findings in a female patient who was born as the second child of consanguine parents. Pregnancy was normal, birth weight 3620 g and body length 52 cm. She was hospitalized immediately after birth because of anal atresia and facial dysmorphism with aplastic alae nasi, mongoloid eye slant and slightly dystopic ears. Bilateral symmetric profound hearing loss was diagnosed by subjective hearing tests and confirmed by auditory evoked brainstem potentials. Otoacoustic emissions were absent. Hearing aids were successfully fitted. Other malformations were a duplex of the uterus and vagina and exocrine pancreatic insufficiency. The anal atresia was corrected surgically.. In general, the exocrine pancreatic insufficiency in the Johanson-Blizzard syndrome requires careful medical management. The aplastic alae nasi require no specific therapy, while in our case in the hearing loss could be treated with hearing aids.

Topics: Abnormalities, Multiple; Audiometry, Evoked Response; Chromosome Aberrations; Chromosome Disorders; Consanguinity; Craniofacial Abnormalities; Deafness; Exocrine Pancreatic Insufficiency; Female; Genes, Recessive; Humans; Infant, Newborn; Nose; Otoacoustic Emissions, Spontaneous; Pregnancy; Syndrome

The conotruncal anomaly face syndrome (CTAF) comprises congenital heart disease and dysmorphic face, and is frequently associated with cleft palate or hypernasality. There have been many discussions about the overlap with velocardiofacial syndrome (VCF). The aim of this study was to clarify the craniofacial characteristics of CTAF patients by clinical examination, and photogrammetric and cephalometric analyses, and to clarify the differences compared to published data on VCF.. The facial features of CTAF included hypertelorism, small palpebral fissures, upward slanting of palpebral fissures, bloated eye lids, low nasal bridge, small mouth, open mouth at rest, and malformed auricles. Cephalometric features included bialveolar protrusion, small gonial angle, backward rotation of the mandibular ramus, and labial inclination of the maxillary incisors. An acute cranial base angle was also noted. These results differed from those of VCF. There were, however, no obvious pathognomonic findings for the differential diagnosis between CTAF and VCF.. Considering these findings, use of CATCH 22, the inclusive classification of cardiac anomalies, cleft palate, and dysmorphic face may be of value for the clinical understanding in these patients.

Topics: Alveolar Process; Cephalometry; Child; Child, Preschool; Cleft Palate; Craniofacial Abnormalities; Diagnosis, Differential; Ear, External; Eyelid Diseases; Eyelids; Female; Heart Defects, Congenital; Humans; Hypertelorism; Incisor; Male; Malocclusion; Mandible; Maxilla; Mouth Abnormalities; Nose; Photogrammetry; Rotation; Skull Base; Speech Disorders; Syndrome

Holoprosencephaly is a congenital defect of the median structures of the brain and face. The epidemiology is poorly known due to the paucity of population-based studies. This study describes the epidemiology of holoprosencephaly in a large population, using cases identified through the New York State Congenital Malformations Registry, and born in 1984-1989. We describe the craniofacial abnormalities present, their frequency, and their cooccurrence, and we examine the correspondence between the severity of craniofacial abnormalities, chromosomal abnormalities, and severity of the brain defect. Liveborn cases totaled 78, yielding a prevalence of 4.8 per 100,000 live births. Prevalence among girls was nearly double that in boys, and was 4.2 times higher among infants of mothers under age 18 compared to infants of older mothers. Only 9.8% of all cases had no craniofacial abnormalities other than the brain defect. Eye malformations were present in 76.8%, nose malformations in 69.5%, ear malformations in 50%, and oral clefts in 41.5%. These malformations arise at different times during gestation. The variability in patterns of cooccurrence suggests variability in the developmental pathways and/or timing of developmental derangements which result in holoprosencephaly. This, in turn, is consistent with a model of multiple causes. Children with alobar holoprosencephaly tended to have the most severe craniofacial anomalies, but the correspondence was not 100%. Craniofacial phenotype does not consistently discriminate between cytogenetically normal and abnormal cases.

Topics: Chromosome Aberrations; Chromosome Disorders; Craniofacial Abnormalities; Eye Abnormalities; Female; Genetic Variation; Holoprosencephaly; Humans; Infant; Infant, Newborn; Male; New York; Nose; Phenotype; Prevalence

Nine cases of frontonasal dysplasia were seen during an 8-year period. Seven were managed in the authors' institution, and the two adult relatives were referred to adult units. The age and sex distribution, the types of defects, and the family pedigree of an affected family are described. Management criteria were formulated according to the severity and other associated abnormalities.

Topics: Abnormalities, Multiple; Adult; Child; Child, Preschool; Cleft Lip; Cleft Palate; Coloboma; Craniofacial Abnormalities; Diagnostic Imaging; Female; Frontal Bone; Humans; Hypertelorism; Infant; Male; Nose; Pedigree; Retrospective Studies

The saddle nose resembles a saddle, i.e., with a concave, often flattened dorsum and an apparent cephalic rotation of the nasal tip. The concavity may be present in the osseous or cartilaginous dorsum, or both. The saddle nose deformity can be divided into congenital, postinfection, postsurgical, and traumatic types. Congenital saddle nose deformity is rare, often accompanying midfacial deficiency malformation syndromes. The advent of antimicrobial therapy has helped restrict the incidence of syphilitic or leprotic saddle nose to the nonindustrialized nations. Postsurgical saddle nose deformity occurs most often as a result of the overzealous septorhinoplasty. The most common type of saddle nose deformity may be traumatic. The authors use Kazanjian and Converse's characterization of the true saddle nose as one in which the bony and/or cartilaginous portions are depressed and the projection of the nose is generally preserved. This article describes the saddle nose deformity and its etiology and proposes a management technique with minimal complications.

Topics: Adolescent; Adult; Bone Substitutes; Bone Transplantation; Cartilage; Craniofacial Abnormalities; Female; Humans; Leprosy; Male; Middle Aged; Nasal Bone; Nasal Septum; Nose; Nose Deformities, Acquired; Rhinoplasty; Rotation; Skull Fractures; Syphilis; Treatment Outcome

The facial anomaly of Johanson-Blizzard syndrome and its correction are described. The facial anomaly was characterized by cleft-like bony defects located in the inferomedial portion of the orbit apart from the hypoplastic maxilla and the absence of nasal alae. Correction of the facial skeleton was performed using a free vascularized iliac bone graft and tripartite osteotomy to correct the shape of the orbit and elongate the severely hypoplastic maxilla. Those procedures were effective to a certain degree in correcting the facial anomaly of Johanson-Blizzard syndrome.

Topics: Bone Lengthening; Child; Craniofacial Abnormalities; Craniotomy; Ectodermal Dysplasia; Exocrine Pancreatic Insufficiency; Facial Bones; Female; Humans; Maxilla; Microsurgery; Nose; Orbit; Syndrome; Tomography, X-Ray Computed

Topics: Congenital Abnormalities; Craniofacial Abnormalities; Nose; Pedigree

Topics: Craniofacial Abnormalities; Humans; Musculoskeletal Abnormalities; Nose; Skull