Acrofacial dysostosis with postaxial limb deficiency

J P Fryns; H Van den Berghe

doi:10.1002/ajmg.1320290126

Acrofacial dysostosis with postaxial limb deficiency

Am J Med Genet. 1988 Jan;29(1):205-8. doi: 10.1002/ajmg.1320290126.

Authors

J P Fryns¹, H Van den Berghe

Affiliation

¹ Center for Human Genetics, University of Leuven, Belgium.

PMID: 3344768
DOI: 10.1002/ajmg.1320290126

Abstract

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / etiology*
Adult
Cleft Lip / etiology
Cleft Palate / etiology
Dysostoses / etiology*
Facial Bones / abnormalities*
Humans
Limb Deformities, Congenital*
Male
Syndrome