Denouement and Discussion
The Stickler Syndrome
The Stickler syndrome is a generalized connective tissue dysplasia. Major manifestations include a "marfanoid" habitus with normal length, joint hyperextensibility, generalized hypotonia, a flat face with hypoplasia of maxilla or mandibula or both, cleft palate, moderate to severe myopia from early childhood or possibly from birth, "spontaneous" retinal detachment during teen-age or early adult life, generalized mild spondyloepiphyseal dysplasia, and overtubulation of the long bones.Less frequent abnormalities include arthropathy, scoliosis, cataracts, hearing loss, and ventriculoseptal defects. Severe hypoplasia of the midface in the form of the Robin anomalad (previously called Pierre Robin syndrome) may lead to severe respiratory distress in the neonatal period, causing asphyxia and possible mental retardation.
The Stickler syndrome is an autosomal
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