Velo-cardio-facial syndrome presenting as holoprosencephaly.
A baby with holoprosencephaly and the tetralogy of Fallot is described. The mother had operative correction of the same cardiac lesion and shows features typical of the velo-cardio-facial syndrome, an autosomal dominant disorder. The association between holoprosencephaly and this condition has not been previously reported. When holoprosencephaly is found associated with congenital heart disease, velo-cardio-facial syndrome should be sought in other family members.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002972:Cleft Palate / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000235:genetics*