Cleft lip and palate, corneal opacities and profound psychomotor retardation. A newly recognized genetic syndrome?
Clinical histories and physical features of two sisters affected with a previously unreported syndrome are presented with illustrations. The manifestations were profound postnatal growth and psychomotor retardation, hydrocephaly, cleft lip and palate, corneal opacities, central nervous system impairment, and genitourinary anomalies. Four other siblings, two males and two females and the parents of the affected were examined and found to be normal. Infectious, metabolic, and chromosomal etiologies were excluded by appropriate studies. The most likely pattern of inheritance is autosomal recessive.
D000015:Abnormalities, Multiple / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003318:Corneal Opacity / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D013577:Syndrome