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Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia
Author(s) -
Bellini Carlo,
Mazzella Massimo,
Arioni Cesare,
Campisi Corradino,
Taddei Gioconda,
Tomà Paolo,
Boccardo Francesco,
Hennekam Raoul C.,
Serra Giovanni
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20180
Subject(s) - hydrops fetalis , medicine , chylothorax , lymphangiectasia , respiratory distress , lymphedema , lymphatic system , fetus , pathology , surgery , pregnancy , genetics , cancer , breast cancer , biology
We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary lymphangiectasia. Hydrops fetalis may be present in newborns with the Hennekam syndrome. Lymphoscintigraphy can be useful in explaining pleural‐pulmonary involvement of this generalized lymph vessel malformation syndrome. © 2003 Wiley‐Liss, Inc.