Oculo-palato-cerebral dwarfism: a new syndrome.
Three of four offspring of consanguineous parents presented a unique association of microcephaly, mental retardation, spasticity, connective tissue abnormalities, cleft palate, persistent hypertrophic primary vitreous, and short stature. In one patient brain atrophy was documented. All the affected individuals had severe asthma and it is thought that the asthma is associated with the syndrome complex. Genetic transmission is most likely autosomal recessive. We believe this constellation of findings to be a new genetic syndrome and have termed it the oculo-palato-cerebral dwarfism syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002675:Child, Preschool; D002972:Cleft Palate / Q000235:genetics*; D004392:Dwarfism / Q000151:congenital* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014822:Vitreous Body / Q000002:abnormalities*