Acrofacial dysostosis with postaxial limb deficiency.
Here we report on an adult man with the postaxial acrofacial dysostosis syndrome, as delineated by Miller et al [1979]. In addition to facial changes strikingly similar to that of the Teacher-Collins syndrome and a cleft soft and hard palate, symmetrical postaxial limb deficiencies with absence of the fifth digital rays in both the upper and lower limbs were present.
Fryns
J P
JP
Center for Human Genetics, University of Leuven, Belgium.
Van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000209:etiology*; D000328:Adult; D002971:Cleft Lip / Q000209:etiology; D002972:Cleft Palate / Q000209:etiology; D004413:Dysostoses / Q000209:etiology*; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male; D013577:Syndrome