Expansion of the phenotype in Hennekam syndrome: A case with new manifestations
Identifieur interne : 004055 ( Istex/Checkpoint ); précédent : 004054; suivant : 004056Expansion of the phenotype in Hennekam syndrome: A case with new manifestations
Auteurs : Brad Angle [États-Unis] ; Joseph H. Hersh [États-Unis]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1997-08-08.
Abstract
We report on a female with lymphedema, facial anomalies, intestinal lymphangiectasia, and moderate mental retardation consistent with the diagnosis of Hennekam syndrome. In addition, she had a number of other anomalies not previously described in this autosomal recessive disorder, including a congenital heart defect, atretic ear canals, vesicoureteral reflux, and rectal prolapse. Am. J. Med. Genet. 71:211–214, 1997. © 1997 Wiley‐Liss, Inc.
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DOI: 10.1002/(SICI)1096-8628(19970808)71:2<211::AID-AJMG17>3.0.CO;2-H
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