Oculo-auricular cranial dysplasia.
نویسندگان
چکیده
GOLDENHAR (1952) reviewed the literature relating to a syndrome consisting of epibulbar dermoids or lipodermoids, auricular appendices, and certain skeletal anomalies. Forty such cases or variants thereof have so far been recorded and Sugar (1966) added three more. We have recently seen an infant with ocular epibulbar dermoids, auricular appendices, congenital hydrocephalus, meningo-encephalocele, and a nasal deformity due to malunion of the medial and lateral nasal folds on the right side. It would appear that hydrocephalus has not previously been described in association with the oculo-auricular syndrome of Goldenhar.
منابع مشابه
Failed intubation in a case of oculoauriculovertebral dysplasia (Goldenhar's syndrome).
Goldenhar's syndrome (oculo-auriculo-vertebral dysplasia) is characterised by epibulbar dermoids, auricular appendages, and vertebral anomalies including occipito-atlanto fusion, wedge and block vertebra, hernivertebra, spina bifida, and/or scoliosis. In addition to the above anomalies there are unilateral colobomas and occasionally microphthalmia; cataract or atrophy of the iris. The ears show...
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OBJECTIVE To describe the most prominent clinical features of a cohort of patients with oculo-auriculo-vertebral (OAV) dysplasia in Brazil. METHOD A review of medical records of patients with diagnosis of OAV from 1990 to 2010 was performed in a medical genetics center. RESULTS 41 patients were included in the study. Their average age at diagnosis was 2y 10mo (34,4±48,8 months) and the fema...
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A case of monozygotic male twins discordant for skeletal and cardiac defect is reported. One twin had the hemifacial microsomia type of the oculo-auriculo-vertebral dysplasia. The cotwin had no asymmetry of the face and normal ears, but preaxial polydactyly and ventricular and auricular septal defects. The cotwins were concordant for craniostenosis with a ridge metopic suture. Karyotypes were n...
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Goldenhar's syndrome is a rare condition described initially in the early 1950's. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformation of the ears. In 1963, Gorlin suggested the name oculo-auriculo-vertebral (OAV) dysplasia for this condition and also included vertebral anomalies as signs of the syndrome. The etiology of this rare dise...
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Introduction Oculo-auriculo-vertebral spectrum, also referred to as Goldenhar syndrome, is a condition characterized by alterations involving the development of the structures of the first and second branchial arches. The abnormalities primarily affect the face, the eyes, the spine, and the ears, and the auricular abnormalities are associated with possible hearing loss. Objective To analyze the...
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ورودعنوان ژورنال:
- The British journal of ophthalmology
دوره 52 4 شماره
صفحات -
تاریخ انتشار 1968