phenylephrine-hydrochloride and Craniosynostoses

Saethre-Chotzen syndrome is an autosomal acrocephalosyndactyly syndrome whose gene has been assigned to chromosome 7p (TWIST). A case of a 13-year-old girl with Saethre-Chotzen syndrome (ACS III) is described. The features of the syndrome include: turriplagiocephaly with a cranial circumference of 52 cm, facial asymmetry, low hairline, proptosis, antimongoloid slanting of palpebral fissures, nasal deviation with high bridge, angled ears, scoliosis and torticollis, clinodactyly of the fourth and fifth toes, large halluxes, and neurosensorial hypoacusia. For correction of the deformity, a cranioorbital remodeling was performed. The craniofacial approach with remodeling of the frontal bar and reduction of the turricephaly resulted in a satisfactory morphological and functional outcome, with complete three-dimensional reshaping and remodeling of the frontonasoorbital area.

Topics: Acrocephalosyndactylia; Adolescent; Chromosomes, Human, Pair 7; Craniosynostoses; Exophthalmos; Eyelids; Facial Asymmetry; Female; Frontal Bone; Humans; Nose; Orbit; Treatment Outcome

Topics: Bone Diseases, Developmental; Craniofacial Dysostosis; Craniosynostoses; Dysostoses; Facial Bones; Female; Frontal Bone; Humans; Infant; Nose; Poland Syndrome

Several new "syndromes" have been described that have in common facial findings identical or similar to those seen in frontonasal malformation (FNM), previously termed frontonasal dysplasia. Some of those new syndromes are inherited, whereas FNM is an isolated finding. Thus there is a need for differentiation among those conditions. A review of the literature was undertaken to identify and classify the various reports that describe FNM as it occurs alone and in association with a syndrome.

Topics: Classification; Craniosynostoses; Eye Abnormalities; Frontal Bone; Humans; Hypertelorism; Nose; Orofaciodigital Syndromes; Skull; Syndactyly; Syndrome

The premature fusion of unilateral coronal suture can cause a significant asymmetry of the craniofacial skeleton, with an oblique deviation of the cranial base that negatively impacts soft tissue facial symmetry. The purpose of this study was to assess facial symmetry obtained in patients with unilateral coronal synostosis (UCS) surgically treated by 2 different techniques. We hypothesized that nasal deviation should not be addressed in a primary surgical correction of UCS.. Consecutive UCS patients were enrolled in a prospective study and randomly divided into 2 groups. In group 1, the patients underwent total frontal reconstruction and transferring of onlay bone grafts to the recessive superior orbital rim (n = 7), and in group 2, the patients underwent total frontal reconstruction and unilateral fronto-orbital advancement (n = 5). Computerized photogrammetric analysis measured vertical and horizontal axis of the nose and the orbital globe in the preoperative and postoperative periods. Intragroup and intergroup comparisons were performed.. Intragroup preoperative and postoperative comparisons showed a significant (all P < 0.05) reduction of the nasal axis and the orbital-globe axis in the postoperative period in the 2 groups. Intergroup comparisons showed no significant difference (all P > 0.05).. Facial symmetry was achieved in the patients with UCS who underwent surgery regardless of surgical approach evaluated here. Our data showed a significant improvement in nasal and orbital-globe deviation, leading us to question the necessity of primary nasal correction in these patients.

Topics: Adult; Aged; Bone Transplantation; Child; Cranial Sutures; Craniosynostoses; Craniotomy; Facial Asymmetry; Female; Humans; Male; Middle Aged; Nose; Orbit; Osteotomy; Photogrammetry; Plastic Surgery Procedures; Postoperative Period; Prospective Studies; Tomography, X-Ray Computed; Treatment Outcome; Unnecessary Procedures

Describe surgical guidelines for a new technique to correct stenotic nares in brachycephalic cats.. 8 client-owned brachycephalic cats with stenotic nares between April 2017 and July 2022.. 8 brachycephalic cats with severe stenotic nares presented to the Angell Animal Medical Center with the patient age ranging from 2 years to 9 years of age. Surgical correction was performed on each cat with the combined use of the "Alar Fold Lift-Up" and "Sulcus Pull-Down" techniques.. Successful correction of the stenotic nares was achieved, enabling each cat to breathe normally.. The combined use of the "Alar Fold Lift-Up" and "Sulcus Pull-Down" techniques is simple to perform on an outpatient basis. Surgery is restricted to the adjacent skin and does not require the surgical alteration of the external nose or nares. Long-term follow-up indicates the procedure is effective in improving nasal breathing in each cat.

Topics: Animals; Constriction, Pathologic; Craniosynostoses; Dog Diseases; Dogs; Nasal Cavity; Nose

Extrinsic and intrinsic factors have been shown to influence nasal microbiota (NM) in humans. Very few studies investigated the association between nasal microbiota and factors such as facial/body conformation, age, and environment in dogs. The objectives are to investigate variations in NM in healthy dogs with different facial and body conformations. A total of 46 dogs of different age, living environment and from 3 different breed groups were recruited: 22 meso-/dolichocephalic medium to large breed dogs, 12 brachycephalic dogs and 12 terrier breeds. The nasal bacterial microbiota was assessed through sequencing of 16S rRNA gene (V1-V3 regions) amplicons.. We showed major differences in the NM composition together with increased richness and α-diversity in brachycephalic dogs, compared to meso-/dolichocephalic medium to large dogs and dogs from terrier breeds.. Healthy brachycephalic breeds and their unique facial conformation is associated with a distinct NM profile. Description of the NM in healthy dogs serves as a foundation for future researches assessing the changes associated with disease and the modulation of NM communities as a potential treatment.

Topics: Animals; Bacteria; Craniosynostoses; Dogs; Female; Male; Microbiota; Nose; RNA, Ribosomal, 16S

To assess improvement of soft-tissue facial symmetry in children surgically treated for unicoronal synostosis (UCS) in infancy, to correlate pre- and postsurgical facial asymmetry and to evaluate whether the improvement was visually recognizable.. Case-controlled follow-up.. Eleven Danish children diagnosed with UCS were included, 3 of whom had tested positive for Muenke mutation. Preoperative computed tomography scans and postoperative 3dMD surfaces were available for measurements. A control group of healthy children matched for age and sex was employed.. Pre- and postsurgical facial asymmetry was analyzed using a computerized method capable of objective and spatially detailed quantification in 3-dimension (transverse, vertical, and sagittal directions). Asymmetry was evaluated in the facial region and 6 subregions (forehead, mouth, eyes, nose, cheek, and chin).. The largest significant improvement was seen in the sagittal direction of the facial (1.9 mm), forehead (2.0 mm), and cheek (3.4 mm) regions. Small but significant improvements were also seen in the mouth, chin, and eye regions. No significant improvement was seen in the nose region. Significant correlations were found between the pre- and postsurgically calculated facial asymmetry and between calculated asymmetry and clinical validation scores.. All patients presented with improved facial symmetry after surgery and the improvements were visually recognizable. However, only 1 (9.1%) of the 11 patients reached a level of facial asymmetry as low as that seen in the control group. The best outcome was, in general, seen in cases with mild facial asymmetry presurgically.

Topics: Child; Craniosynostoses; Facial Asymmetry; Forehead; Humans; Imaging, Three-Dimensional; Nose; Tomography, X-Ray Computed

Midface dysgenesis is a feature of more than 200 genetic conditions in which upper airway anomalies frequently cause respiratory distress, but its etiology is poorly understood. Mouse models of Apert and Crouzon craniosynostosis syndromes exhibit midface dysgenesis similar to the human conditions. They carry activating mutations of

Topics: Acrocephalosyndactylia; Animals; Cartilage; Cell Cycle; Cell Proliferation; Chondrocytes; Cranial Sutures; Craniofacial Dysostosis; Craniosynostoses; Disease Models, Animal; Embryo, Mammalian; Face; Gene Expression Regulation, Developmental; Mice, Inbred C57BL; Mice, Mutant Strains; Nose; Organ Specificity; Receptor, Fibroblast Growth Factor, Type 2; Respiratory System Abnormalities

Current operative techniques for correcting unicoronal craniosynostosis (UCS) leave the nasal bones untouched, resulting in an unclear long-term impact on nasal root deviation. The purpose of this study is to quantify nasal root deviation in the preoperative and late postoperative setting in patients who have undergone conventional single-staged UCS correction.. The authors performed a retrospective, craniometric analysis of nasal root deviation comparing preoperative computed tomography scans, with those of the early, and late postoperative period. Three vectors were analyzed to measure nasal root deviation, one extending from the nasion to the rhinion (nasal bone vector), the second from the rhinion to the anterior nasal spine (nasal aperture vector), and the third from the nasion to the anterior nasal spine (nasal longitudinal vector).. Twenty-five subjects were included in the study. Average ages at the time of preoperative, early, and late postoperative imaging were 0.6 ± 0.3, 0.9 ± 0.6, and 9.3 ± 2.7 years, respectively. Improvement of angular deviation of both the nasal aperture vector and nasal longitudinal vector was observed. Mean angular deviation of the nasal aperture vector was 6.0 ± 1.9 degrees preoperatively, 6.0 ± 2.1 degrees early postoperatively (P = 0.952), and 2.4 ± 2.1 in the late postoperative period (P = 0.013). Mean angular deviation of the nasal longitudinal vector was 5.7+2.0 degrees preoperatively, 5.8 ± 2.3 degrees early postoperatively (P = 0.948), and 3.7 ± 1.6 degrees in the late postoperative period (P = 0.019).. Nasal root deviation decreased significantly only in the late postoperative period, lending credence to the notion that though UCS correction does not directly address nasal root deviation, this pathology improves significantly over time.

Topics: Adult; Bone Transplantation; Cephalometry; Child; Child, Preschool; Craniosynostoses; Female; Follow-Up Studies; Humans; Infant; Male; Nose; Postoperative Complications; Retrospective Studies; Tomography, X-Ray Computed; Young Adult

Craniosynostoses affecting the forehead sutures can not only cause brain damage, but can also have an esthetic impact, because of the associated orbito-naso-frontal deformations. Reshaping the orbito-naso-frontal bandeau (ONFB) is difficult to appreciate perioperatively and should ideally be customized to each child. The aim of this study was to develop a template to guide the surgeon preoperatively towards an ideal customized remodelling of the ONFB.. A previous study conducted on computed tomography scans obtained from healthy children allowed us to conclude that the whole ONFB shape could be accurately described just by the distance measured between the fronto-zygomatic sutures (FZD), independently of age and gender. Our customizable template relies on this measurement.. A re-usable template, built around three supports adjustable to a wide range of FZD, was designed using the CAD 3D Rhinoceros. The use of a customizable surgical template allows the surgeon to perform accurate and ideal perioperative remodeling of the ONFB in children suffering from craniosynostosis affecting the forehead sutures. Our prototype is currently the only one to be adjustable according to the FZD. The utility of this device will be assessed in a future prospective clinical study.

Topics: Computer-Aided Design; Cranial Sutures; Craniosynostoses; Craniotomy; Facial Bones; Female; Frontal Bone; Humans; Male; Nose; Orbit; Surgery, Computer-Assisted; Tomography, X-Ray Computed

Little is known about the positional change of the Le Fort III segment following advancement. To study this, pre- and postoperative computed tomography scans of 18 craniosynosthosis patients were analyzed. The Le Fort III segment movement was measured by creating a reference coordinate system and by superpositioning the postoperative over the preoperative scan. On both the pre- and postoperative scans, four anatomical landmarks were marked: the most anterior point of the left and right foramen infraorbitale, the nasion, and the anterior nasal spine. A significant anterior movement of the four reference points was observed. No significant transversal differences were found. A significant difference between the anterior movement of the nasion and anterior nasal spine was found. In vertical dimension, there was a significant cranial movement of nasion in the study group. In addition, from all patients standardized lateral X-rays were viewed to determine the location and direction of force application that were linked to the outcomes of the three-dimensional movement of the nasion and anterior nasal spine (ANS) and the surgical technique. Conclusively, a significant advancement of the midface can be achieved with Le Fort III distraction osteogenesis in this specific patient group. Counterclockwise movement seemed to be the most dominant movement despite different modes of anchorage.

Topics: Adolescent; Anatomic Landmarks; Cephalometry; Child; Craniosynostoses; Female; Follow-Up Studies; Frontal Bone; Humans; Image Processing, Computer-Assisted; Male; Maxilla; Nasal Bone; Nose; Orbit; Osteogenesis, Distraction; Osteotomy, Le Fort; Syndrome; Tomography, X-Ray Computed; Treatment Outcome; Vertical Dimension; Zygoma

The suggested concept of rhinorespiratory homeostasis is a new theoretical model for the discussion of physiologic and physical principles of nasal breathing. This model is based on a comprehensive view of nasal functions that takes comparative animal physiology into account. Consequently, it has a universal cross-species character and emphasizes the central role of nasal secretion. In contrast to the established view, the focus is transferred from the inspired air to the nasal wall. This concept considers the parietal effect of airflow represented by wall shear stress with special regard to the epithelial lining fluid. It delivers one possible mechanism of an inherent triggering of the nasal cycle. Furthermore, the issue of biological fluid-structure interaction is introduced. This article presents a rethinking of nasal breathing that was inspired by clinical experience and results of flow field investigations through computational fluid dynamics.

Topics: Airway Resistance; Animals; Body Temperature Regulation; Craniosynostoses; Homeostasis; Humans; Hydrodynamics; Mammals; Nasal Cavity; Nasal Mucosa; Nose; Pulmonary Ventilation; Shear Strength; Stress, Mechanical; Turbinates

Frontoorbital advancement (FOA) improves forehead and superior orbital asymmetry associated with unilateral coronal synostosis but has little effect on facial asymmetry. This study compares frontofacial symmetry after FOA and endoscopically assisted suturectomy (ESC) and postoperative helmet therapy.A retrospective review of 2 cohorts of patients with nonsyndromic unilateral coronal synostosis who had either FOA or ESC was undertaken. Choice of procedure was determined by age of patient at referral (younger than 4 months, FOA or ESC; older than 4 months, only FOA). Vectra 3D imaging system (Canfield Imaging Systems, Fairfield, NJ) was used to capture and analyze three-dimensional digital images. Comparative anthropometric measurements were made and statistically analyzed.Twenty-two patients met the inclusion criteria; 11 underwent ESC at mean age of 2 months (range, 1-4 months) and 11 underwent FOA at mean age of 12 months (range, 8-25 months). Mean age at three-dimensional digital imaging was 45.9 months (range, 18-64 months) for the FOA group and 34.5 months (range, 20-66 months) for the ESC group (P = 0.054).There was no difference between the 2 groups with regard to supraorbital symmetry (P = 0.54). The ESC group exhibited better facial symmetry in midline deviation (3.6° vs 1.4°; P = 0.018), nasal tip deviation (5.6° vs 2.3°; P = 0.006), and middle facial depth (6.9 vs 4.4 mm; P = 0.042). Lower facial depth was similar (3.8 vs 2.3 mm; P = 0.54).Early ESC and helmet therapy results in comparable brow symmetry and better overall facial symmetry than FOA done in late infancy.

Topics: Cephalometry; Child, Preschool; Cranial Sutures; Craniosynostoses; Endoscopy; Face; Facial Asymmetry; Female; Follow-Up Studies; Forehead; Frontal Bone; Head Protective Devices; Humans; Image Processing, Computer-Assisted; Imaging, Three-Dimensional; Infant; Male; Nose; Orbit; Photography; Plastic Surgery Procedures; Retrospective Studies; Treatment Outcome

Nasal deviation plays an important role in plagiocephaly nosography, and it is frequent in plagiocephaly and objectivable both in early treated patients and in those patients who did not undergo any surgical correction.. The group analyzed consisted of 12 patients affected by anterior synostotic plagiocephaly. All of them had reached the end of growth. A morphological analysis was made by using anthropometry. All patients were asked to undergo computed tomography, and all the scans were then reconstructed into three-dimensional models using a dedicated software. We made two-dimensional assessments on coronal and axial slices, and three-dimensional reconstruction was used to evaluate the volumetry of ethmoidal cells.. From anthropometry, we realized that, in all patients, not only that the tip of the nose is deviated to the not affected side but also that the root itself does not lie on the midline and it is tilted to the synostotic side. Analysis of the computed tomographic scan results shows that the ethmoid bone, as much as the vomer and the upper maxilla, is deeply involved in these nasal abnormalities, presenting a deviated position and an altered development.. We concluded that nasal morphology in plagiocephaly is strictly related to basicranium dysmorphism.

Topics: Adult; Anthropometry; Craniosynostoses; Ethmoid Bone; Female; Humans; Imaging, Three-Dimensional; Male; Nose; Radiographic Image Interpretation, Computer-Assisted; Tomography, X-Ray Computed

Topics: Abnormalities, Multiple; Child; Craniosynostoses; Deafness; Fingers; Humans; Male; Microstomia; Nose; Syndrome; Tooth Abnormalities

Craniofrontonasal dysplasia (CFND) is a rare developmental anomaly associated with an X-linked inheritance. It is predominantly expressed in females. A Chiari malformation (CM) has not been reported in such patients earlier. The authors report on a family with 3 female members who have marked and generalized CFND. The generalized bone dysplasia/hypertrophy resulted in reduction in the posterior cranial fossa volume in all 3 patients, and in a CM associated with syringomyelia in 2 of them. One of the 2 affected family members who had a CM and syringomyelia was symptomatic and was treated by foramen magnum decompression surgery. The 3 family members had remarkable similarity in their external facial features and in their radiologically revealed morphological features. A review of the relevant literature, genetic abnormalities, and pattern of inheritance is presented.

Topics: Abnormalities, Multiple; Arnold-Chiari Malformation; Craniofacial Dysostosis; Craniosynostoses; Family Health; Female; Humans; Hypertelorism; Middle Aged; Nose; Tomography, X-Ray Computed; Young Adult

Nasal airflow resistance in brachycephalic dogs is significantly elevated compared to normal dogs. LaserAssisted TurbinEctomy (LATE)-surgery as well as xylometazolin were shown to reduce pathologically increased intranasal airway resistance in brachycephalic dogs by approximately 50 %. Impulse oscillometry provides a reliable and sensitive method to examine intranasal stenoses in the canine nose. Acoustic rhinometry allows assessment of changes in cross sectional area and volume of the canine nasal cavity.

Topics: Airway Resistance; Animals; Craniosynostoses; Dog Diseases; Dogs; Laser Therapy; Nasal Obstruction; Nose; Oscillometry; Rhinometry, Acoustic; Turbinates

Selective breeding for exaggerated features caused in many brachycephalic dog and cat breeds virtually a loss of the nose, with serious anatomical and functional consequences. In addition to respiratory and olfactory tasks, in dogs the nose is of vital importance for thermoregulation. As obligatory nose breathers, dogs suffer far more than humans when their nasal ventilation is restricted. An open discussion in the broad public has to motivate authorities and kennel clubs to recognize extreme brachycephalic breeding as seriously affecting animal health and welfare.

Topics: Airway Obstruction; Animal Welfare; Animals; Body Temperature Regulation; Breeding; Cat Diseases; Cats; Craniosynostoses; Dog Diseases; Dogs; Humans; Nose; Paranasal Sinuses; Selection, Genetic; Smell; Species Specificity; Tomography, X-Ray Computed

Genoa syndrome was first described by Camera et al in 1993 in two patients with semilobar holoprosencephaly (HPE), craniosynostosis and abnormal small hands with cone-shaped epiphyses and hypoplastic terminal phalanges of fingers (OMIM: 601370). In 2001, Lapunzina et al reported a case of craniosynostosis and HPE associated with several other malformations and suggested that these findings could be attributed to a severe form of Genoa syndrome or to a newly recognized syndrome. Endocrinopathies in association with HPE are frequently reported in the literature. Diabetes insipidus, hypothyroidism, hypocortisolism, and growth hormone deficiency are frequently associated with HPE. We here report a case of semilobar HPE, craniosynostosis and cleft lip/palate, possibly a case of Genoa syndrome, associated with central diabetes insipidus.

Topics: Abnormalities, Multiple; Cleft Lip; Cleft Palate; Craniosynostoses; Diabetes Insipidus, Neurogenic; Holoprosencephaly; Humans; Infant; Male; Nose; Syndrome

Topics: Abnormalities, Multiple; Anophthalmos; Brain; Craniosynostoses; Humans; Infant; Intellectual Disability; Male; Nose; Phenotype; Severity of Illness Index; Skull; Syndrome; Ultrasonography

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

The aims of this study were to develop a method for constructing a 3-dimensional finite-element model (FEM) of the maxilla and to evaluate the effects of transverse expansion on the status of various midpalatal sutures.. A 3-dimensional FEM of the craniofacial complex was developed by using computed-tomography images and Bionix modeling software (version 3.0, CANTIBio, Suwon, Korea). To evaluate the differences between transverse expansion forces in the solid model (maxilla without a midpalatal suture), the fused model (maxilla with suture elements), and the patent model (maxilla without suture elements), transverse expansion forces of 100 g were applied bilaterally to the maxillary first premolars and the first molars.. The fused model expressed a stress pattern similar to that of the solid model, except for the decreased first principal stress concentration in the incisive foramen area. The patent model, however, had a unique stress pattern, with the stress translated superiorly to the nasal area. The anterior nasal spine and the central incisors moved downward and backward in both solid and fused models but moved primarily downward with a slight backward movement of the anterior nasal spine in the patent model.. Clinical observations of maxillary expansion can be explained by different suture statuses. This efficient and customized FEM model can be used to predict craniofacial responses to biomechanics in patients.

Topics: Adult; Bicuspid; Biomechanical Phenomena; Computer Simulation; Cranial Sutures; Craniosynostoses; Elastic Modulus; Finite Element Analysis; Humans; Imaging, Three-Dimensional; Incisor; Male; Maxilla; Models, Biological; Molar; Nasal Bone; Nose; Palatal Expansion Technique; Palate; Stress, Mechanical; Tomography, X-Ray Computed

The conventional or zigzag bicoronal incision has been widely used in craniofacial surgery. Unfortunately, after the incision, the temporoparietal (TP) fascia has to be abandoned because of its vascular or structural damages.. The author describes a technique to preserve the TP fascia during the incision.. The coronal incision stopped at the subcutaneous plane. The dissection continued subcutaneously under the posterior edge of the incision as in the elevation of TP fascia. After cutting through the TP fascia, the dissection continued anteriorly in the subgaleal plane as in the coronal dissection.. A total number of 15 craniofacial patients underwent bicoronal incision with this technique. The time spent for preservation of the TP fascia was 10 to 15 minutes for both sides.. The bicoronal incision with preserved TP fascia as described provides an alternative to the patient who may need TP fascia for future uses.

Topics: Ankylosis; Craniosynostoses; Dissection; Encephalocele; Fascia; Fasciotomy; Frontal Bone; Humans; Hypertelorism; Meningocele; Muscle, Skeletal; Nose; Parietal Bone; Plastic Surgery Procedures; Subcutaneous Tissue; Surgical Flaps; Temporal Arteries; Temporal Muscle; Temporomandibular Joint Disorders; Time Factors

Cranial synostosis is relatively common; however, premature closure of a facial suture is remarkably rare. We describe an adolescent male with zygomaticotemporal synostosis that manifested as progressive midfacial and orbital asymmetry, angulation of the cranial base, and nasal deviation. To our knowledge, this is the first description of this anomaly in the literature.

Topics: Child; Craniosynostoses; Disease Progression; Facial Asymmetry; Humans; Image Processing, Computer-Assisted; Imaging, Three-Dimensional; Male; Nose; Orbit; Skull Base; Temporal Bone; Tomography, X-Ray Computed; Zygoma

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

We report a brother and sister born to consanguineous parents. The siblings have hypertelorism, bifid nose, upturned nares, histologically proven intranasal dermoid, and soft-tissue swellings of the philtrum. One sibling also has a midline cleft lip and the other has narrowing of the posterior choanae. We suggest that they have craniorhiny, despite the absence of an abnormal skull shape. The differential diagnosis is discussed.

Topics: Child; Child, Preschool; Cleft Lip; Congenital Abnormalities; Craniosynostoses; Diagnosis, Differential; Facies; Family Health; Female; Genes, Recessive; Humans; Hypertelorism; Male; Nose; Siblings

Craniofrontonasal dysplasia is a rare, familial X-linked syndrome with coronal synostosis (brachycephaly or plagiocephaly), hypertelorbitism (frequently asymmetric), and extracranial anomalies. Details of the timing and technique of the craniofacial correction have not been well described. The largest series of patients with craniofrontonasal dysplasia treated at a single institution was used for review.. A review of patients at the University of California, Los Angeles Craniofacial Clinic with the diagnosis of craniofrontonasal dysplasia was performed (n = 21). Data included office, hospital, and operative records; photographs; lateral cephalograms; and three-dimensional computed tomographic scans. Based on surgical outcomes, a treatment algorithm was created.. Fourteen patients were female, seven were male, and five had a family history of craniofrontonasal dysplasia (24 percent). Eight patients had unilateral coronal synostosis (plagiocephaly) and 13 had bilateral coronal synostosis (brachycephaly). Eleven patients had asymmetric hypertelorbitism and 10 had symmetric hypertelorbitism. Patients also had cleft lip-cleft palate (10 percent), ear deformities (19 percent), strabismus or esotropia (81 percent), dry frizzy hair (100 percent), syndactyly (14 percent), and nail (100 percent) or other anomalies. After fronto-orbital advancement, no patients had increased intracranial pressure problems or difficulty related to resynostosis. After hypertelorbitism correction, three patients relapsed. Because of this, correction in later patients was delayed until after eruption of permanent maxillary incisors. The mean anterior interorbital distance was reduced in patients from 184 percent to 98 percent of sex-matched controls.. The phenotypic expression of craniofrontonasal dysplasia is described to recognize patients early. A treatment algorithm for craniofrontonasal dysplasia based on timing and technique is offered to decrease the need for revision and improve outcomes.

Topics: Abnormalities, Multiple; Algorithms; Cleft Lip; Cleft Palate; Craniosynostoses; Eye Abnormalities; Female; Genetic Diseases, X-Linked; Hair; Humans; Hypertelorism; Infant; Limb Deformities, Congenital; Male; Nails, Malformed; Nose; Plastic Surgery Procedures; Retrospective Studies; Treatment Outcome

Craniofrontonasal syndrome (CFNS) is an X-linked disorder whose main clinical manifestations include coronal craniosynostosis and frontonasal dysplasia. Very recently, CFNS was shown to be caused by mutations in EFNB1 encoding ephrin-B1, and 20 mutations have been described. We report a Thai woman with CFNS, in whom a novel mutation was discovered: c.685_686insG, in exon 5 of EFNB1. It is the first insertion and the most 3' point mutation in EFNB1 reported to date. The mutation is expected to result in a truncated ephrin-B1 of 230 amino acids, composed of a nearly complete extracellular part of ephrin-B1 with no transmembrane and cytoplasmic domains. This truncated protein might become a soluble form of the ligand, which previously was shown to be able to bind to receptors, but fail to cluster and to activate them--in other words, acting as a dominant negative protein. Nonetheless, further studies to detect the protein are needed to substantiate the hypothesis.

Topics: Adult; Carrier Proteins; Craniosynostoses; Ephrin-B1; Female; Genetic Diseases, X-Linked; Humans; Nose; Point Mutation; Syndrome

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

Mutations in genes known to be responsible for most of the recognizable syndromes associated with bilateral coronal synostosis can be detected by molecular testing. The genetic alterations that could cause unilateral coronal synostosis are more elusive. It is recognized that FGFR and TWIST mutations can give rise to either bilateral or unilateral coronal synostosis, even in the same family. The authors undertook a prospective study of patients presenting with synostotic frontal plagiocephaly (unilateral coronal synostosis) to Children's Hospital Boston during the period from 1997 to 2000. Mutational analysis was performed on all patients and on selected parents whenever familial transmission was suspected. Intraoperative anthropometry was used in an effort to differentiate those patients in whom a mutation was detected from those in whom it was not. The anthropometric measures included bilateral sagittal orbital-globe distance, inter medial canthal distance, and nasal angulation. Macrocephaly and palpebral angulation were also considered possible determinants. There was a 2:1 female preponderance in 47 patients with synostotic frontal plagiocephaly. Mutations were found in eight of 47 patients: two patients with different single-amino-acid changes in FGFR2, three patients with FGFR3 Pro250Arg, and three patients with TWIST mutations. Another patient had craniofrontonasal syndrome for which a causative locus has been mapped to chromosome X, although molecular testing is not yet available. Two features were strongly associated with a detectable mutation in patients with synostotic frontal plagiocephaly: asymmetrical brachycephaly (retrusion of both supraorbital rims) and orbital hypertelorism. Other abnormalities in the craniofacial region and extremities were clues to a particular mutation in FGFR2, FGFR3, TWIST, or the X-linked mutation. Neither macrocephaly nor degree of nasal angulation nor relative vertical position of the lateral canthi correlated with mutational detection. An additional four patients in this study had either unilateral or bilateral coronal synostosis in an immediate relative and had anthropometric findings that predicted a mutation, and yet no genetic alteration was found. This suggests either that the authors' screening methods were not sufficiently sensitive or that perhaps there are other unknown pathogenic loci. Nevertheless, molecular testing is recommended for infants who have unilateral coronal synostosis, particularly if ther

Topics: Adult; Cephalometry; Child, Preschool; Craniosynostoses; DNA Mutational Analysis; Female; Humans; Infant; Male; Mutation; Nose; Nuclear Proteins; Orbit; Protein-Tyrosine Kinases; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Skull; Transcription Factors; Twist-Related Protein 1

Fronto-orbital bilateral advance is the procedure of choice for the treatment of craniosynostosis affecting most of the anterior area of the skull and orbitomalar regions. The aim of the technique is to achieve a supra-orbital bilateral bar and a frontal bone. We have introduced a modification in order to simplify the technique.. From November 1998 to January 2002, 18 patients with craniosynostosis have been surgically treated using our technique. The mean age when the treatment was performed was 6.93 months (range 3 to 22 months). Brain computed tomography (CT) scans and three-dimensional (3-D) reconstruction of CT scans were performed before and after treatment.. A bifrontal craniotomy was performed taking the osteotomy up to the supraorbital rim. A new frontal bone was obtained from another region of the cranium creating new orbital edges. The osteosynthesis was conducted using absorbable materials.. The follow-up of the patients ranged from 3 months to 3 years. All patients were studied using CT scans and 3-D reconstruction of CT after treatment, which demonstrated the persistence of the fronto-orbital advance. No secondary complications related to the new technique were found in any of the patients.. The frontal-orbital advance obtained was stable. The technique was simplified by not creating a supraorbital bar and by reducing the bone fixation points. The manipulation of both frontal lobes and orbital globes was negligible. The aesthetic results were excellent.

Topics: Bone Remodeling; Child, Preschool; Craniosynostoses; Craniotomy; Female; Frontal Bone; Humans; Imaging, Three-Dimensional; Infant; Male; Nose; Orbit; Plastic Surgery Procedures; Retrospective Studies; Tomography, X-Ray Computed

Topics: Abnormalities, Multiple; Craniosynostoses; Female; Hernia, Diaphragmatic; Humans; Infant; Karyotyping; Nose; Syndrome

The incidence of deformational posterior plagiocephaly has increased dramatically since 1992. We tested the hypothesis that mandibular asymmetry, associated with this condition, is secondary to anterior displacement of the ipsilateral temporomandibular joint. The response to molding helmet therapy was also evaluated.. A caliper was used to measure mandibular dimensions in 27 infants (16 boys and 11 girls) with deformational posterior plagiocephaly; the mean age was 6.2 months (range, 3 to 12 months). Anthropometric measures included ramal height (condylion-gonion), body length (gonion-gnathion), and condylion-gnathion. Gonial angle was calculated from the law of cosines: C(2) = A(2) + B(2) - 2AB cos c. The position of the temporomandibular joint was accepted as corresponding to auricular position and measured from tragion to subnasal. Cranial asymmetry was measured, in the horizontal plane, from orbitale superius to the contralateral parieto-occipital point at the level of inion. Ten of 27 patients were remeasured 5 months after beginning helmet therapy to evaluate change in mandibular dimensions.. Two thirds of infants (67%) had right-sided and one third (33%) had left-sided deformational posterior plagiocephaly. The mean auricular anterior displacement was 79.7 mm on the affected side and 83.4 mm on the unaffected side. The mean difference of 3.8 mm between the sides was statistically significant (P <.001). Transverse cranial dimension averaged 136.0 mm on the affected side and 146.8 mm on the unaffected side; this was also significant (P <.001). There was a significant positive correlation between auricular displacement and cranial asymmetry [R(23) =.59, P <.01). Auricular (temporomandibular joint) displacement also resulted in an apparent mandibular asymmetry with rotation of the jaw to the affected side. Mean mandibular measurements on the affected and unaffected sides were ramus height of 35.2 and 36.4 mm, body length of 59.0 and 60.3 mm, and gonial angle of 127.1 degrees and 126.8 degrees, respectively. Comparison of the affected with the unaffected sides, using a paired-samples t test, was not statistically significant. Improvement in cranial asymmetry occurred with helmet therapy, but there was no correction of auricular and temporomandibular joint position.. This study supports the clinical observation that the mandibular asymmetry in deformational posterior plagiocephaly is secondary to rotation of the cranial base and anterior displacement of the temporomandibular joint (quantified by anterior auricular position) and not the result of primary mandibular deformity.

Topics: Anthropometry; Cephalometry; Craniosynostoses; Ear, External; Facial Asymmetry; Female; Follow-Up Studies; Head Protective Devices; Humans; Infant; Male; Mandibular Condyle; Mandibular Diseases; Matched-Pair Analysis; Nose; Occipital Bone; Orbit; Orthopedic Procedures; Parietal Bone; Rotation; Statistics as Topic; Temporomandibular Joint

Rigid fixation has been used over the past 20 years for the long-lasting correction of traumatic and congenital craniofacial defects. It has been noted that the use of plates and screws can result in the migration of the hardware through the skull to the inner cerebral cortex where it embeds in the dura. In addition, there is controversy concerning the safety of using titanium plates in the pediatric population. We report here on an 8-year-old boy who presented to our clinic with a chronic headache after rigid craniofacial fixation using titanium plates 7 years before.

Topics: Bone Plates; Bone Screws; Child; Chronic Disease; Craniosynostoses; Craniotomy; Dura Mater; Foreign Bodies; Foreign-Body Migration; Headache; Humans; Male; Nose

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

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

Craniofacial synostosis designates premature fusion in sutures of the cranial vault (calvarium). When craniofacial synostosis is associated with a syndrome (e.g., Apert, Crouzon), premature fusion of the cranial base has been postulated to occur as well. This study was designed to determine whether the primary growth disturbance in craniofacial synostosis is located at the cranial base (i.e., spheno-occipital synchondrosis) or the calvarial vault (i.e., coronal and sagittal sutures) or both. Sixty newborn New Zealand White rabbits were randomly assigned to six groups: (I) calvarial control, (II) cranial base control, (III) cranial base immobilization, (IV) coronal suture immobilization, (V) coronal and sagittal suture immobilization, and (VI) cranial base and coronal and sagittal suture immobilization. An anterior cervical microsurgical approach to the cranial base was used, while cranial vault sutures were exposed through a bicoronal scalp incision. All sutures were fused by periosteal abrasion and application of methyl cyanoacrylate. Cephalograms were taken at 30, 60, and 90 days postoperatively to assess craniofacial growth. Linear and angular measurements of facial, calvarial, and basicranial growth were subjected to multivariate analysis. Analysis indicated that (1) craniofacial length was shortened most significantly by cranial base fusion, (2) cranial base fusion and cranial vault fusion had an additive effect on craniofacial length restriction, (3) the anterior cranial base was significantly shortened by cranial base and cranial vault fusion (p < 0.05), (4) the posterior cranial base was shortened by cranial base fusion only (p < 0.05), and (5) cranial base fusion alone significantly flattened the cranial base angle (p < 0.05), whereas cranial vault fusion alone did not. These results suggest that cranial base fusion alone may account for many dysmorphic features seen in craniofacial synostosis. This model is consistent with the findings of other investigators and confirms both a primary directive and translational role of the cranial base in craniofacial growth.

Topics: Animals; Animals, Newborn; Cephalometry; Cranial Sutures; Craniosynostoses; Cyanoacrylates; Follow-Up Studies; Frontal Bone; Immobilization; Maxilla; Maxillofacial Development; Microsurgery; Multivariate Analysis; Nose; Occipital Bone; Palate; Parietal Bone; Periosteum; Rabbits; Random Allocation; Skull Base; Sphenoid Bone; Syndrome; Tissue Adhesives; Vertical Dimension

Topics: Abnormalities, Multiple; Adult; Brain; Craniosynostoses; Female; Fetal Diseases; Fetal Growth Retardation; Humans; Infant, Newborn; Intellectual Disability; Male; Microcephaly; Micrognathism; Nose; Pregnancy; Syndrome; Ultrasonography, Prenatal

The term of 'plagiocephaly' coined by Virchow in 1851, that literally means 'cranial asymmetry' has been applied to dysmorhic skulls that look similar but which sometimes have a different etiology. The authors report a new clinical classification of plagiocephaly in order to simplify the categorization of this disease. A series of 100 patients with plagiocephaly were observed and treated. A clinical investigation of these cases, some considerations about the techniques used, the analysis of the results and a long-term follow-up complete the study reported.

Topics: Bone Transplantation; Child, Preschool; Cranial Sutures; Craniosynostoses; Ethmoid Bone; Female; Follow-Up Studies; Frontal Bone; Humans; Infant; Male; Nose; Occipital Bone; Orbit; Osteotomy; Parietal Bone

Between 1975 and 1992, 426 children with craniofacial malformations were treated in the Department of Pediatric Neurosurgery at the Hôpital des Enfants de la Timone in Marseille. Plagiocephaly was present in 71 (16.6%). The authors present a reproducible analysis of the skull base in plagiocephaly based on these 71 patients. A control group of Mediterranean children (n = 20) was used for comparison. Clinical anthropometric patterns were analyzed in all cases. Comparison with the control group showed a difference only in the nasion-lambda distance. Data obtained from clinical anthropometry were compared for the involved and the uninvolved sides. A three-dimensional reconstruction was possible in 20 cases. The statistical correlation between the basal angles (nasion-pterional, nasion-petrosal, nasion-clino-basion, and zygomatic angles) of the involved and uninvolved sides allows a new nosographic identification of this complex malformation.

Topics: Cephalometry; Child, Preschool; Craniosynostoses; Female; Humans; Image Processing, Computer-Assisted; Infant; Infant, Newborn; Male; Nose; Orbit; Paranasal Sinuses; Radiographic Image Interpretation, Computer-Assisted; Reference Values; Zygoma

The unoperated crano-orbito-zygomatic complex of 18 children (mean 4.7 years) with frontonasal dysplasia (FND) and 12 children (mean 1.1 years) with crainofrontonasal dysplasia (CFND) was quantified by 15 standard measurements performed on either computed tomography scans or facial tomograms. The results were compared with age-matched control values. In the FND group, the mean anterior interorbital and mid-interorbital distances were significantly increased at 148% and 118% of normal, and in the CFND patients, at 177% and 140% of normal. Excessive medial orbital wall protrusion (mean, 145% of normal in FND and 177% in CFND), shortened zygomatic arch lengths (mean, 94% of normal in FND and 91% in CFND), and reduced cephalic lengths (mean, 96% of normal in FND and 83% in CFND) were all observed. An expanded interzygomatic buttress distance was documented only in the CFND group, at 11% of normal. The clinical presentation of craniofacial deformities such as FND and CFND can be objectively described by a numerical analysis of the bony pathology.

Topics: Adolescent; Child; Child, Preschool; Craniosynostoses; Facial Bones; Female; Humans; Hypertelorism; Infant; Male; Nose; Observer Variation; Reproducibility of Results; Syndrome; Tomography, X-Ray Computed

An unknown syndrome of oxycephaly, nose deformity, hair growth on the skin at the base of the nose, symmetrical cyst formation on the upper lip, and aplasia of the nasolacrimal ducts in a mother and her three children is presented. This syndrome showed autosomal dominant inheritance. All three children were operated on. Oxycephaly and lip deformity in two of the children and hypertelorism that existed in addition to the other anomalies in the third were all corrected. All corrective surgery was performed during a single session for each child.

Topics: Abnormalities, Multiple; Adult; Child; Craniosynostoses; Cysts; Female; Humans; Lip; Male; Nasolacrimal Duct; Nose; Pedigree; Syndrome

Bone grafts's traditional donor sites in cranio-maxillo-facial surgery have been for many years and are still in some occasions the ribs, iliac crest and tibia. Bone grafts taken from the calvaria have been used by some surgeons in the past but its wide acceptance was only achieved after Paul Tessier had reported his own experience. The calvaria is composed of inner and outer tables that encloses a layer of cancellous bone called the diploe. A high degree of variability exist with respect to skull thickness. Nevertheless parietal bones is the preferable site for the harvesting of the graft. The embryonic origin of the cranium should be responsible for greater survival of the graft. Membranous bone would maintain its volume to a greater extent than endochondral bone when autografted in the cranio-facial region. However this remains controversial. Two techniques can be used for the harvesting of a calvarial bone grafts. A split thickness calvarial graft involves removal of the outer table while leaving the inner layer in place. Its main disadvantage is the relatively thinness of the bone transferred. A full thickness segment of skull involves the cranium cavity be entered. A half of the graft can be split along the diploe space and returned to fill the donor site. The other half is used for reconstruction. It is a more complicated procedure. Cranial grafts have been used in the following cases. Correction of contour defect of the forehead and zygomatic bones, orbital floor reconstruction, restoration of the nasal bridge, bone grafting of the maxilla and mandibule. The advantages are the following: the donor and recipient sites are in adjacent surgical fields, the donor site scar is hidden in the scalp, morbidity associated with removing the graft is almost inexistent. (ABSTRACT TRUNCATED AT 250 WORDS)

Topics: Craniosynostoses; Facial Bones; Humans; Maxillofacial Injuries; Nose; Orbital Fractures; Skull

We describe a 10-year-old girl with features of a frontonasal dysplasia and a right-sided Poland anomaly. As there has been one previous case report of pectoral muscle hypoplasia in association with craniofrontonasal dysplasia, the relationship between these two conditions is discussed.

Topics: Abnormalities, Multiple; Child; Craniosynostoses; Female; Humans; Hypertelorism; Nose; Poland Syndrome

Topics: Adolescent; Child; Craniosynostoses; Diagnosis, Differential; Facial Bones; Female; Humans; Infant; Limb Deformities, Congenital; Male; Nose; Skull; Syndrome; Thorax

We have identified a case of craniofrontonasal dysplasia which demonstrates the potential lethality of this gene. Genetic analysis of this pedigree and nine others reveals that craniofrontonasal dysplasia does not follow a Mendelian mode of inheritance and may be a human mutation analogous to the T-locus of mice.

Topics: Abnormalities, Multiple; Craniosynostoses; Female; Frontal Sinus; Genes, Lethal; Humans; Nose; Pedigree; Pregnancy

Coronal craniosynostosis, hypertelorism, telecanthus, broad grooved nasal tip, dental anomalies, mild syndactyly and broad thumbs, consistent with craniofrontonasal dysplasia are described in a family of four affected females over three generations. Documentation of the family is of interest because of variable clinical features and an excess of affected females. The excess of females observed in this condition is as yet unexplained, but cannot be referred simply to X-linked dominance with lethality in the male. Autosomal dominance with less frequent and less severe expression in the male is more tenable. Chromosome analysis on two affected family members revealed a fragile site at 12q13, which was also found in a phenotypically normal family member. A third affected individual did not exhibit this fragile site. Thus it appears that there is a heritable fragile 12q13 site segregating in this family separately from the gene for craniofrontonasal dysplasia.

Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosome Disorders; Chromosome Fragile Sites; Chromosome Fragility; Chromosomes, Human, 13-15; Chromosomes, Human, 6-12 and X; Craniosynostoses; Female; Frontal Sinus; Humans; Nose; Pedigree

Topics: Craniosynostoses; Fingers; Frontal Sinus; Humans; Infant; Male; Nose; Sex Factors; Syndrome; Terminology as Topic

It is postulated that craniosynostosis is due to a growth abnormality in all or part of the cranial capsule. Release of the stenosed part in the first months of life will re-establish the balance between the rapidly growing brain and eye, and the cranial capsule. Three periods for operative treatment are described: early, intermediate and late. Only in the early period can operative treatment restore normal growth dynamics; in the late period the aim is correction of an established deformity. The relationship between cranial clefts and frontonasal encephaloceles is explored. If the space-occupying encephalocele is removed early, the distorted facial bones adopt a more normal position, whereas cranial clefts do not respond to early operation by remoulding. The treatment of the acquired deformities of acute cranio-facial trauma have taken on new perspectives with the application of the multi-disciplinary approach and surgical techniques developed in the treatment of congenital deformities resulting in considerable reduction in the period of hospitalisation.

Topics: Child; Child, Preschool; Craniofacial Dysostosis; Craniosynostoses; Encephalocele; Ethmoid Bone; Female; Frontal Bone; Humans; Infant; Male; Meningocele; Nose; Skull Fractures; Tomography, X-Ray Computed

Topics: Congenital Abnormalities; Craniosynostoses; Diagnosis, Differential; Ear; Eye Abnormalities; Eye Color; Female; Hair; Hair Color; Humans; Hypertelorism; Infant, Newborn; Male; Mouth Abnormalities; Nose

Topics: Acrocephalosyndactylia; Adolescent; Bone Development; Child; Craniofacial Dysostosis; Craniosynostoses; Female; Follow-Up Studies; Forehead; Humans; Hypertelorism; Infant; Male; Nose; Nose Deformities, Acquired; Syndrome

Topics: Abnormalities, Multiple; Adolescent; Child, Preschool; Cleft Lip; Cleft Palate; Craniofacial Dysostosis; Craniosynostoses; Dermoid Cyst; Encephalocele; Eye Neoplasms; Eyelids; Face; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Limb Deformities, Congenital; Micrognathism; Microphthalmos; Nose; Strabismus