oculoauriculovertebral dysplasia

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oculoauriculovertebral dysplasia

(ˈɒkjʊləʊˌɔːˈrɪkjʊləʊˈvɜːtɪbrəl dɪspleɪzɪə)
n
(Pathology) the technical name for Goldenhar's syndrome
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Born with Goldenhar Syndrome, which causes malformations in the face, he has had 30 surgeries to improve his vision, hearing and ability to breathe, chew and swallow.
Goldenhar syndrome is the first reported congenital anomaly following ART; however, there are a few studies about Goldenhar syndrome following ICSI (5).
Goldenhar syndrome, also known as oculo-auriculo-vertebral dysplasia, is characterized by a wide range of congenital anomalies, such as micrognathia, oral cavity malformations, and vertebral anomalies and always causes difficult airway.
(6,7) Isolated clinical comorbidities * Laryngomalacia * Subglottic stenosis * Subdural hematoma * Central nervous system malformations including Arnold Chiari malformation * Arthrogryposis * Facial dysmorphic features * Velopharyngeal insufficiency * Hypotonia/myopathy * Ear deformities/sensorineural hearing loss Syndromic associations * Robinow syndrome * Goldenhar syndrome * Down syndrome * Williams syndrome * DiGeorge syndrome * Mobius syndrome * Charcot-Marie-Tooth disease (type 1, 1b and 2) * JS-X syndrome * Hereditary neuralgic amyotrophy * Congenital myasthenic syndrome
The rare condition was called Goldenhar syndrome and meant her son had no eye, ear, nostril and an underdeveloped jaw, on one side, caused by a chromosome abnormality.
Charlene Beswick's son Harry suffers from a rare condition known as Goldenhar syndrome which means he had no eye, ear, nostril and underdeveloped jaw on one side due to a chromosome abnormality.
Alice, from Cardiff, has Goldenhar syndrome, which is potentially life-limiting
Gareth Hickenbottom-Marriot has been inked for the second time, after initially getting a cochlear implant tattooed to match his daughter Briar, who has Goldenhar syndrome.
Goldenhar syndrome (GS) is a rare congenital malformation occurring due to defective development of first and second branchial arches which was first described in 1952 by a Swiss ophthalmologist Maurice Goldenhar.
Oculoauricular dysplasia, consisting of preauricular appendages, fistulas, and epibulbar dermoids, was first described in 1952 by the Swiss ophthalmologist Maurice Goldenhar and hence named Goldenhar syndrome. Gorlin et al.