TY - JOUR
T1 - Expansion of the phenotype in Hennekam syndrome
T2 - A case with new manifestations
AU - Angle, Brad
AU - Hersh, Joseph H.
PY - 1997/8/8
Y1 - 1997/8/8
N2 - 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.
AB - 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.
KW - Heart defect
KW - Hennekam syndrome
KW - Intestinal lymphangiectasia
KW - Lymphedema
KW - Rectal prolapse
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U2 - 10.1002/(SICI)1096-8628(19970808)71:2<211::AID-AJMG17>3.0.CO;2-H
DO - 10.1002/(SICI)1096-8628(19970808)71:2<211::AID-AJMG17>3.0.CO;2-H
M3 - Article
C2 - 9217224
AN - SCOPUS:0030844485
SN - 0148-7299
VL - 71
SP - 211
EP - 214
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 2
ER -