January 19, 2008

Goldenhar syndrome

Goldenhar syndrome: Congenital malformation of the jaw, cheek and ear associated with vertebral defects. There is deformity of the external ear and abnormal smallness of that half of the face. Coloboma (cleft) of the upper eyelid is frequent. The ear deformities range from tags in front of the ear, to atresia (closure) of the external auditory canal, abnormalities in the size and shape of the ear, and even anotia (lack of the ear). These features represent problems that occurred in the development of structures known as the first and second branchial archs during embryonic life. Most of the children with the disorder are of normal intelligence. Cosmetic surgery is needed. Other names for the condition include hemifacial microsomia, facio-auriculo-vertebral spectrum, facioauriculovertebral sequence, oculo-auriculo-vertebral spectrum, oculoauriculovertebral dysplasia, and the first and second branchial arch syndrome.


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