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 primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy. There has 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, microcephaly, bilateral persistent hyperplastic primary vitreous with right microphthalmia, long ears with thickened helices, small hands and feet, highly arched palate, joint hypermobility, hypoplastic nails, frontal cerebral atrophy and thinning of the corpus callosum on brain magnetic resonance imaging, and mild developmental delay. He has much milder features than those seen in the previously reported cases.
Pellegrino
J E
JE
Department of Obstetrics, Gynecology, and Reproductive Sciences, Division of Clinical Genetics, UMDNJ-Robert Wood Johnson Medical School, New Brunswick, New Jersey 08903, USA. pellegje@umdnj.edu
Engel
J M
JM
Chavez
D
D
Day-Salvatore
D
D
D000015:Abnormalities, Multiple / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome; D013687:Telencephalon / Q000002:abnormalities