phenylephrine-hydrochloride and Coloboma

Topics: Abnormalities, Multiple; Chromosome Deletion; Chromosomes, Human, Pair 2; Cleft Palate; Coloboma; Heart Septal Defects, Ventricular; Humans; Infant; Intellectual Disability; Male; Nose; Retina

Topics: Amniotic Band Syndrome; Cleft Palate; Coloboma; Eyelids; Face; Facial Bones; Humans; Hypertelorism; Infant; Infant, Newborn; Lip; Male; Nose; Skin Abnormalities; Skull

Topics: Abnormalities, Multiple; Coloboma; Heart Defects, Congenital; Humans; Nose

We report a male with features of frontonasal dysplasia, but also with ocular and auricular defects. This child most likely has oculoauriculofrontonasal syndrome, an autosomal recessive syndrome first described in 1981. We also review the literature on this syndrome, and discuss differential diagnosis.

Topics: Abnormalities, Multiple; Coloboma; Diagnosis, Differential; Ear, External; Eyelids; Facial Bones; Humans; Infant; Male; Nose; Skull

BNAR syndrome (MIM608980) is a very rare condition: nine cases belonging to three unrelated families were reported since its first description in 2002. The distinctive clinical feature is the bifidity of the tip of the nose and its association with anorectal and/or renal anomalies. Its molecular basis consisting of biallelic FREM1 missense or nonsense mutations was elucidated after studying the original Egyptian family and was confirmed in two families originating from Afghanistan and Pakistan. We describe a fourth family originating from Turkey with signs challenging the diagnostic criteria suggested by the description of the three reported families.

Topics: Abnormalities, Multiple; Coloboma; Egypt; Humans; Hypertelorism; Male; Musculoskeletal Abnormalities; Nose; Nose Diseases; Pakistan; Phenotype; Receptors, Interleukin; Respiratory System Abnormalities; Turkey

Bosma arhinia microphthalmia syndrome (Bosma syndrome)(OMIM 603457) is a congenital condition characterized by microphthalmia with coloboma, arhinia and endocrine findings in the setting of normal intelligence and brain structure. This condition is quite rare with fewer than 50 case reports and series. Although pathogenesis is presumed to be genetic, the cause remains unknown. We report an individual with Bosma syndrome who had bilateral colobomatous microphthalmia, arhinia, high arched palate, mild ear malformations, and hypogonadotropic hypogonadism requiring growth hormone treatment in childhood, and normal intelligence. Clinical evaluation was significant for a geometrically abnormal aorta with effacement of the sinotubular ridge, a finding not previously reported in this condition. An MRI revealed absent olfactory bulbs. Suggested criteria for diagnosis of Bosma should include arhinia, hypoplastic maxilla, normal cognition, and hypogonadotropic hypogonadism in males.

Topics: Abnormalities, Multiple; Adult; Brain Diseases, Metabolic, Inborn; Choanal Atresia; Coloboma; Corneal Opacity; Facial Bones; Humans; Intellectual Disability; Magnetic Resonance Imaging; Male; Microcephaly; Microphthalmos; Nose; Olfactory Bulb

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

Tessier no 3 cleft, bony syngnathia, and maxillary duplication are rare as independent anomalies and have never been reported together in a single case. Here we present a patient with congenital bony syngnathia, maxillary duplication, and a Tessier no. 3 nasal cleft. Other abnormalities included situs inversus, dextrocardia, coarctation of the aorta, left choanal stenosis, left coloboma, and hypertelorbitism. Given the unique presentation, we present our early surgical management to this complex problem.

Topics: Aortic Coarctation; CHARGE Syndrome; Choanal Atresia; Coloboma; Dextrocardia; Diagnosis, Differential; Humans; Hypertelorism; Infant, Newborn; Male; Mandible; Maxilla; Nose; Situs Inversus

Coloboma of the upper eyelid is a rare congenital disease. It is defined as an agenesis of the eyelid free edge. Multiple patho-physiological theories exist about its etiology. The surgical therapeutic management of this malformation is clearly codified. We illustrate the presentation by two cases treated in the Groupement Hospitalier Nord of Lyon University Hospital.

Topics: Child; Child, Preschool; Coloboma; Eyelids; Female; Follow-Up Studies; Humans; Infant, Newborn; Male; Maxillofacial Abnormalities; Nose; Orthognathic Surgery

Topics: Anterior Eye Segment; Cataract; Coloboma; Congenital Abnormalities; Female; Humans; Hypertelorism; Infant, Newborn; Microphthalmos; Nose; Posterior Eye Segment

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

Heminasal agenesis is a rare congenital malformation often associated with deformities of the eyes and lacrimal system, midface, and proboscis lateralis. Reconstruction is especially challenging because of missing lining, cartilage, and skin. We present a case of heminasal agenesis in a 5-year-old girl with concomitant hypertelorism, coloboma of the eyelids, and maxillary hypoplasia. The patient underwent facial bipartition for hypertelorism correction and cantilever bone graft. A forehead flap was designed using an anaplastic model from the patient's twin sister. Cartilage harvested from the conchal bowl and rib provided alar and dorsal support. Reconstructive goals, timing, and options are discussed.

Topics: Child, Preschool; Coloboma; Eyelids; Female; Humans; Hypertelorism; Maxilla; Maxillofacial Abnormalities; Nose; Rhinoplasty; Treatment Outcome

Oculoauriculovertebral spectrum (OAVS) is a rare congenital malformation consisting of epibulbar dermoids, lid colobomas, auricular deformities, hypoplasia of the soft and bony tissues of the face, associated oral deformities and vertebral anomalies. This report presents a child with a choroid of the right eye, coloboma of the upper eyelid, epibulbar dermoid of the left eye, mandibular hypoplasia, facial asymmetry, bilateral complete cleft lip and palate, hypoplasia of the left alar cartilage, appendage of the left nose, butterfly vertebral defects of Th-1, Th-2 and abnormality of rib XI. Widened sulci of frontal and parietal lobes, bilateral white matter density decrease and calcifications of falx cerebelli were noted. Axial hypotony and delayed psycho-motor development were apparent. This rare case presents a range of severe clinical manifestations of oculoauriculovertebral spectrum. Despite a normal cervical vertebral column, tracheostenosis was present. It caused difficulties in tracheal intubation, creating the need for a tracheostomy, and death after a failed attempt at decannulation. This case indicates that in patients with clinical manifestations including cerebral anomalies, a risk of respiratory insufficiency should be always taken under consideration, when planning surgery.

Topics: Cleft Lip; Cleft Palate; Coloboma; Dermoid Cyst; Eye Neoplasms; Facial Asymmetry; Fatal Outcome; Follow-Up Studies; Goldenhar Syndrome; Humans; Infant, Newborn; Male; Mandible; Nose; Psychomotor Performance; Ribs; Thoracic Vertebrae; Tracheal Stenosis

Loss of function mutations in FREM1 have been demonstrated in Manitoba-oculo-tricho-anal (MOTA) syndrome and Bifid Nose Renal Agenesis and Anorectal malformations (BNAR) syndrome, but the wider phenotypic spectrum that is associated with FREM1 mutations remains to be defined. We screened three probands with phenotypic features of MOTA syndrome. In one severely affected infant who was diagnosed with MOTA syndrome because of bilateral eyelid colobomas, a bifid nasal tip, hydrometrocolpos and vaginal atresia, we found two nonsense mutations that likely result in complete loss of FREM1 function. This infant also had renal dysplasia, a finding more consistent with BNAR syndrome. Another male who was homozygous for a novel stop mutation had an extensive eyelid colobomas, corneopalpebral synechiae, and unilateral renal agenesis. A third male child diagnosed with MOTA syndrome because of corneopalpebral synechiae and eyelid colobomas had a homozygous splice site mutation in FREM1. These cases illustrate that disruption of the FREM1 gene can produce a spectrum of clinical manifestations encompassing the previously described MOTA and BNAR syndromes, and that features of both syndromes may be seen in the same individual. The phenotype of FREM1-related disorders is thus more pleiotropic than for MOTA and BNAR syndrome alone and more closely resembles the widespread clinical involvement seen with Fraser syndrome. Moreover, our first case demonstrates that vaginal atresia may be a feature of FREM1-related disorders.

Topics: Abnormalities, Multiple; Anal Canal; Coloboma; Consanguinity; Fatal Outcome; Female; Genetic Association Studies; Humans; Hypertelorism; Infant; Infant, Newborn; Kidney Diseases; Male; Molecular Diagnostic Techniques; Mutation; Nose; Phenotype; Receptors, Interleukin; Rectal Diseases; Sequence Analysis, DNA

Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare condition defined by eyelid colobomas, cryptophthalmos and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. Autosomal recessive inheritance had been assumed because of consanguinity in the Oji-Cre population of Manitoba and reports of affected siblings, but no locus or cytogenetic aberration had previously been described.. This study shows that MOTA syndrome is caused by mutations in FREM1, a gene previously mutated in bifid nose, renal agenesis, and anorectal malformations (BNAR) syndrome. MOTA syndrome and BNAR syndrome can therefore be considered as part of a phenotypic spectrum that is similar to, but distinct from and less severe than, Fraser syndrome. Re-examination of Frem1(bat/bat) mutant mice found new evidence that Frem1 is involved in anal and craniofacial development, with anal prolapse, eyelid colobomas, telecanthus, a shortened snout and reduced philtral height present in the mutant mice, similar to the human phenotype in MOTA syndrome.. The milder phenotypes associated with FREM1 deficiency in humans (MOTA syndrome and BNAR syndrome) compared to that resulting from FRAS1 and FREM2 loss of function (Fraser syndrome) are also consistent with the less severe phenotypes resulting from Frem1 loss of function in mice. Together, Fraser, BNAR and MOTA syndromes constitute a clinically overlapping group of FRAS-FREM complex diseases.

Topics: Abnormalities, Multiple; Adolescent; Adult; Anal Canal; Animals; Anorectal Malformations; Anus, Imperforate; Base Sequence; Child; Child, Preschool; Coloboma; Extracellular Matrix Proteins; Eyelids; Female; Fraser Syndrome; Gene Dosage; Hernia, Umbilical; Humans; Hypertelorism; Male; Mice; Molecular Sequence Data; Mutation; Nose; Nose Diseases; Oligonucleotide Array Sequence Analysis; Pedigree; Phenotype; Receptors, Interleukin; Reverse Transcriptase Polymerase Chain Reaction; Syndrome

Number 3 cleft or oral-nasal-ocular cleft is a well-known entity that was described by Morian over a century ago. This malformation is a paranasal-medial orbitomaxillary cleft running across the lacrimal segment of the lower eyelid and over the lacrimal groove. The Tessier number 3 naso-ocular cleft represents one of the most difficult and challenging malformations to correct for the reconstructive surgeon. We have conducted a retrospective analysis of our series consisting of 21 cases.. The objective was to review the functional outcome and aesthetic results of the different techniques applied for each case.. From 1997 to 2007, 21 patients with a Tessier number 3 cleft were treated in our craniofacial units. The clinical findings, tomographic studies, and surgical procedures were reviewed and analyzed. We have discussed our protocol of the treatment.. We have treated facial malformation in 2 craniofacial centers. Fourteen patients were evaluated in the first year of their life, with an average age at presentation of 3 years. Twelve patients were female, and 9 were male; 6 patients had amniotic bands in limbs, 5 patients had an association with Tessier number 11 cleft, 3 patients with number 9 cleft, and 1 with number 7 cleft. Related to cleft lip, 10 patients had bilateral cleft lip, and 8 patients had unilateral cleft lip. Three patients did not have any involvement of the upper lip. The alar base was deviated upward in 19 patients, 11 cases had severe anatomic alteration with the lateral border of the ala above the medial canthus, and 8 cases had a mild dislocation. Nine cases of lacrimal duct obstruction and 8 cases of lacrimal duct extrophy were identified. Twelve patients had a lower eyelid coloboma of varying grades, and there were 2 cases of microblepharia. Aiming the soft tissue reconstruction, eyelid, nose, and upper lip were evaluated regarding their position, absence of tissue, and position of medial canthus and ala. Twelve of our patients underwent correction in the same moment, their medial canthus rotated upward and the ala downward, using the contralateral side as the reference. The lip was treated using a Millard-like technique. Neo-conjunctivorhinostomy was performed in the same moment in 2 patients or later in 1 case. Four patients had plagiocephaly due to the cranial involvement, and they were submitted to cranioplasty. Three had neurosurgical approach and advancement of the frontal bandeau. One adult patient received an acrylic plate to reshape the frontal area.. Tessier number 3 cleft is one of the most difficult and challenging malformations to correct for the reconstructive surgeon. Besides the difficulties of its treatment, patients with Tessier number 3 cleft may achieve good results when the team has good skills.

Topics: Adolescent; Adult; Child; Child, Preschool; Cleft Lip; Coloboma; Dacryocystorhinostomy; Esthetics; Eyelids; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Lacrimal Apparatus Diseases; Male; Maxilla; Maxillofacial Abnormalities; Nose; Orbit; Plastic Surgery Procedures; Retrospective Studies; Treatment Outcome

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

Topics: Abnormalities, Multiple; Coloboma; Diagnosis, Differential; Female; Follow-Up Studies; Humans; Infant, Newborn; Iris; Magnetic Resonance Imaging; Nose; Rhinoplasty; Tomography, X-Ray Computed

Goldenhar syndrome is a well-known developmental anomaly of maxillofacial skeleton and hemi-facial soft tissue, was later included to a broader classification called oculo-ariculo-vertebral spectrum. Here we report a patient presenting goldenhar syndrome with accessory auricula, defined as polyotia, coloboma and bifid tongue.

Topics: Coloboma; Ear, External; Female; Follow-Up Studies; Goldenhar Syndrome; Humans; Infant; Nose; Tongue

Proboscis lateralis is one of the rare craniofacial congenital anomalies which presents as an obvious deformity of the nose. It tends to occur in male offspring of consanguineous marriages. This is a report of computerized tomography of this rare anomaly. In proboscis lateralis, the nasal cavity on one side is completely normal, while on the affected side it is replaced by a trunk-like process attached to the medial portion of the orbital roof. This anomaly occurs sporadically as an isolated defect or in association with other anomalies. It is usually associated with developmental failure of the paranasal sinuses and the nasolacrimal duct.

Topics: Coloboma; Humans; Infant; Male; Nose; Plastic Surgery Procedures; Tomography, X-Ray Computed

Topics: Abnormalities, Multiple; Coloboma; Female; Fingers; Foot Deformities, Congenital; Genes, Dominant; Humans; Limb Deformities, Congenital; Macula Lutea; Male; Nails, Malformed; Nose; Pedigree; Receptor Tyrosine Kinase-like Orphan Receptors; Receptors, Cell Surface; Syndrome; Tooth Abnormalities; Wales

Topics: Coloboma; Humans; Infant, Newborn; Male; Nose

We report a Brazilian boy, born to normal and nonconsanguineous parents showing, among other signs, brachycephaly, a wide forehead, a widow's peak, hypertelorism, wide palpebral fissures with multiple eyelid colobomas, a broad nasal root, a long philtrum, macrostomia, prominent lips, a high arched palate, a midline alveolar cleft, a small and grooved chin, ear anomalies, structural anomaly of the corpus callosum, and mental retardation. To our knowledge this additional patient defines a particular clinical condition previously reported [Guion-Almeida M.L. Richieri-Costa A. (1999) Clinical Dysmorphol 8;1-4; Masuno M. et al. (2000) Clin Dysmorphol 9:59-60].

Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Child; Coloboma; Diagnosis, Differential; Ear; Eyelids; Family Health; Humans; Intellectual Disability; Macrostomia; Male; Nose; Phenotype

Proboscis lateralis is a rare facial anomaly resulting in incomplete formation of one side of the nose. We report a left-sided proboscis lateralis case of a 9 months old male with left-sided heminasal aplasia, microphthalmi, coloboma iris and retina and an arachnoid cyst in the temporal fossa of the brain. We present the clinical, radiological features of this unusual case.

Topics: Abnormalities, Multiple; Arachnoid Cysts; Coloboma; Follow-Up Studies; Humans; Infant; Magnetic Resonance Imaging; Male; Microphthalmos; Nose; Plastic Surgery Procedures; Tomography, X-Ray Computed

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

We report extreme expression of Treacher Collins syndrome in an infant with arhinia, anotia, absent zygomatic bones, hypoplastic mandibular rami, and bilateral coloboma of iris, choroid plexus, and optic nerves. The Treacher Collins phenotype was mildly expressed in the mother and moderately in the sister. The father had no signs and was not ruled out as the father by DNA fingerprinting, thus making homozygosity by descent in the severely affected son very unlikely.

Topics: Adult; Brain; Child; Chromosome Mapping; Chromosomes, Human, Pair 5; Coloboma; DNA Fingerprinting; Female; Homozygote; Humans; Infant, Newborn; Male; Mandibulofacial Dysostosis; Nose; Phenotype; Pregnancy; Skull; Tomography, X-Ray Computed; Uvea

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

Fraser syndrome is a rare autosomal recessive disorder whose major manifestations are cryptophthalmos, syndactyly and genital abnormalities. These patients also frequently have malformations of the ears, nose and/or larynx. The diagnosis is usually made at birth from the obvious malformations, although occasionally made on prenatal ultrasound. Treatment is dependent on which malformations are present and genetic counseling is indicated. Prognosis is dependent on the severity of renal and laryngeal malformations.

Topics: Coloboma; Ear; Eye Abnormalities; Female; Genitalia; Humans; Infant, Newborn; Larynx; Nose; Prognosis; Severity of Illness Index; Syndactyly; Syndrome

Cryptophthalmos refers to a group of uncommon congenital anomalies of eyelid formation that can occur alone or in combination with multiple congenital anomalies as part of the Fraser syndrome. We present a case of bilateral abortive cryptophthalmos in a child with Fraser syndrome and discuss the problems of surgical management. A brief discussion of isolated and syndromic cryptophthalmos, including normal eyelid development, the pathogenesis of cryptophthalmos, and the management options follows.

Topics: Abnormalities, Multiple; Coloboma; Conjunctiva; Eyelids; Humans; Infant, Newborn; Male; Nose; Syndrome

Topics: Abnormalities, Multiple; Blepharoptosis; Child, Preschool; Coloboma; Humans; Infant; Infant, Newborn; Intellectual Disability; Karyotyping; Male; Nose; Pedigree; Phenotype

An autosomal dominant dysplasia-malformation syndrome affecting seven individuals in one family is reported. The components of the syndrome include congenital nasopalpebral lipoma, telecanthus, and bilateral colobomas of upper and lower lids without midface hypoplasia. It appears to be the second recorded example resulting from an autosomal dominant gene fully penetrant in both sexes.

Topics: Child, Preschool; Coloboma; Eyelids; Humans; Lipoma; Male; Nose; Pedigree; Syndrome

We describe 5 children with midline facial anomalies and iris colobomata reminiscent of frontonasal "dysplasia." Two patients have, in addition, abnormalities of the eyelids and one of them probably has the rare autosomal recessive condition frontofacionasal "dysplasia." The patients may have a new syndrome of midline facial defects, iris colobomata, and mental retardation.

Topics: Abnormalities, Multiple; Adult; Child, Preschool; Coloboma; Developmental Disabilities; Face; Female; Genes, Recessive; Humans; Hypertelorism; Infant; Iris; Male; Nose; Syndrome

Our 20-year experience with the treatment of 154 nasal clefts corresponding to numbers 1, 2, 3, and 0 of Tessier's classification is presented. The different varieties of each type of cleft are discussed, and the clinical features and therapeutic problems of each are described. The various operative procedures used in the last two decades are analyzed, and we evaluate the long-term evolution in relation to the aesthetic results and facial growth. Our present criteria for treatment are presented.

Topics: Adolescent; Adult; Child, Preschool; Coloboma; Diseases in Twins; Facial Bones; Female; Humans; Male; Nose; Rhinoplasty; Skull; Surgery, Plastic

A very rare abnormality is reported of congenital absence of the right half of the nose in combination with microphthalmia, coloboma, epiphora and median cleft of the alveolus.

Topics: Abnormalities, Multiple; Alveolar Process; Coloboma; Humans; Infant; Lacrimal Apparatus Diseases; Male; Microphthalmos; Nose

To our knowledge, median cleft of nose without apparent hypertelorism (bifid nose) has been reported only twice [Esser, 1939; Boo-chai, 1965]. We report five individuals in 3 generations of a family who had a bifid nose without apparent hypertelorism or mental retardation. In this family bifid nose was most likely an autosomal dominant trait.

Topics: Abnormalities, Multiple; Adult; Child; Child, Preschool; Coloboma; Female; Genes, Dominant; Humans; Microcephaly; Nose; Pedigree; Retina

We report 21 patients with choanal atresia or ocular coloboma or both who have certain other associated anomalies, including congenital heart disease, postnatal growth deficiency, mental retardation and/or CNS anomalies, microphallus and cryptorchidism, and ear anomalies and/or deafness. Facial palsy, micrognathia, cleft palate, and swallowing difficulties were also common. It has not been possible to define a single etiology or a syndrome in these patients. We propose the mnemonic CHARGE (C-coloboma, H-heart disease, A-atresia choanae, R-retarded growth and retarded development and/or CNS anomalies, G-genital hypoplasia, and E-ear anomalies and/or deafness) to describe the features of this association.

Topics: Abnormalities, Multiple; Adult; Central Nervous System; Coloboma; Deafness; Developmental Disabilities; Ear; Eye Abnormalities; Female; Growth Disorders; Heart Defects, Congenital; Humans; Male; Nasopharynx; Nose; Sexual Dysfunction, Physiological

Topics: Abnormalities, Multiple; Adolescent; Coloboma; Eye Abnormalities; Eyelids; Female; Humans; Infant; Male; Nose; Surgery, Plastic

Topics: Adult; Child; Cleft Lip; Coloboma; Female; Genes, Dominant; Humans; Infant; Intellectual Disability; Male; Microcephaly; Nose; Pedigree; Syndrome

An 8-month-old infant boy with median facial cleft syndrome had eyelid coloboma, symblepharon, and a cytic mass in the left upper eyelid. The mass proved to be an ectatic cornea containing a large cystic lens. Maldevelopment of the entire anterior segment of the eye was also present, although the posterior globe was well formed. We postulate that an area of localized abnormal mesodermal differentiation and fusion at the 17- to 20-mm stage of development served as a common mechanism for all the defects noted.

Topics: Abnormalities, Multiple; Cleft Lip; Cleft Palate; Coloboma; Cornea; Craniofacial Dysostosis; Eye; Eye Abnormalities; Eyelids; Face; Hair; Humans; Hypertelorism; Infant; Male; Nose; Nose Deformities, Acquired; Orbit; Skull; Syndrome; Tissue Adhesions

Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 13-15; Coloboma; Eye Abnormalities; Humans; Infant; Karyotyping; Male; Mouth Abnormalities; Nose; Translocation, Genetic; Trisomy

Topics: Abnormalities, Severe Teratoid; Cleft Lip; Coloboma; Eye; Eye Diseases; Humans; Infant; Nose; Nose Deformities, Acquired