Acrofacial dysostosis with postaxial limb deficiency.
作者信息
Fryns J P, Van den Berghe H
机构信息
Center for Human Genetics, University of Leuven, Belgium.
出版信息
Am J Med Genet. 1988 Jan;29(1):205-8. doi: 10.1002/ajmg.1320290126.
PMID:3344768
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.
摘要
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