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Expansion of the phenotype in Hennekam syndrome: A case with new manifestations

✍ Scribed by Angle, Brad; Hersh, Joseph H.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 22 KB
Volume: 71
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970808)71:2<211::aid-ajmg17>3.0.co;2-h

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✦ Synopsis

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.

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