Familial holoprosencephaly.
The authors report a family in which several individuals were born with various anomalies of the face and brain. An analysis of the pedigree supports the hypothesis that a single gene defect with variable expressivity and reduced penetrance is responsible for the familial faciocerebral syndrome described which may range from fusion of the eyelids to various combinations of bilateral or median cleft lip and palate, absent nose and single brain ventricle.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D004569:Electroencephalography; D005143:Eyelids / Q000002:abnormalities; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics; D009295:Nasal Bone / Q000002:abnormalities; D009667:Nose Deformities, Acquired; D010375:Pedigree