Oculo-palatal-cerebral syndrome: A second case

Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic prim ary vitreous, microphthalmia, large ears, small hands and feet, cleft palat e, joint hypermobility, developmental delay, and cerebral atrophy. There ha s been one report of a consanguineous family with three affected children, suggesting autosomal recessive inheritance. We report on the second case of this disorder. Our patient, a 2-year-old boy, had growth delay, microcepha ly, bilateral persistent hyperplastic primary vitreous with right microphth almia, long ears with thickened helices, small hands and feet, highly arche d palate, joint hypermobility, hypoplastic nails, frontal cerebral atrophy and thinning of the corpus callosum on brain magnetic resonance imaging, an d mild developmental delay. He has much milder features than those seen in the previously reported cases. (C) 2001 Wiley-Liss,Inc.