A family with the popliteal pterygium syndrome.
A family with the Popliteal Pterygium Syndrome is presented. The father was born with a cleft of the palate and lower lip pits. Two of the three offspring showed extensive involvement of the palate, gums, and lips with minimal involvement of the lower limbs, genitalia, and nails.
D000015:Abnormalities, Multiple / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007717:Knee / Q000002:abnormalities; D008297:Male; D008875:Middle Aged; D009059:Mouth Diseases / Q000235:genetics; D011625:Pterygium / Q000235:genetics*; D013577:Syndrome