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Obesity-Cerebral-Ocular-Skeletal Anomalies Syndrome
General: Rare, autosomal recessive disease; similar to Prader-Willi and Laurence-Moon-Bardet-Biedl syndromes (see Prader-Willi Syndrome; Laurence-Moon-Bardet-Biedl Syndrome).
Ocular: Microphthalmia; antimongoloid slant of lid fissure; asymmetrical size of fissure; strabismus; myopia; iris and chorioretinal colobomata; mottled retina; prominent choroidal vessels.
Clinical: Obesity (mid-childhood onset); hypotonia; mental retardation; craniofacial anomalies with microcephaly; tapering extremities; hyperextensibility at elbows and proximal interphalangeal joints; cubitus valgus; genu valgum; simian creases; syndactyly.
Cohen MM, et al. A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies. J Pediatr 1973; 83:280.
Hall BD, Smith DW. Prader-Willi syndrome. J Pediatr 1972; 81:286.
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