Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia

Carlo Bellini; Massimo Mazzella; Cesare Arioni; Corradino Campisi; Gioconda Taddei; Paolo Tomà; Francesco Boccardo; Raoul C. Hennekam; Giovanni Serra

doi:https://doi.org/10.1002/ajmg.a.20180

Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia

Carlo Bellini, Massimo Mazzella, Cesare Arioni, Corradino Campisi, Gioconda Taddei, Paolo Tomà, Francesco Boccardo, Raoul C. Hennekam, Giovanni Serra

Paediatric Genetics (AMC)

Research output: Contribution to journal › Article › Academic › peer-review

51 Citations (Scopus)

Abstract

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. (C) 2003 Wiley-Liss, Inc

Original language	English
Pages (from-to)	92-96
Journal	American journal of medical genetics. Part A
Volume	120A
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.a.20180
Publication status	Published - 2003

Access to Document

https://doi.org/10.1002/ajmg.a.20180

Cite this

@article{a25c4e6f7690446180ec6f2512d04ff5,

title = "Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia",

abstract = "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. (C) 2003 Wiley-Liss, Inc",

author = "Carlo Bellini and Massimo Mazzella and Cesare Arioni and Corradino Campisi and Gioconda Taddei and Paolo Tom{\`a} and Francesco Boccardo and Hennekam, {Raoul C.} and Giovanni Serra",

year = "2003",

doi = "https://doi.org/10.1002/ajmg.a.20180",

language = "English",

volume = "120A",

pages = "92--96",

journal = "American journal of medical genetics. Part A",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

number = "1",

}

TY - JOUR

T1 - Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia

AU - Bellini, Carlo

AU - Mazzella, Massimo

AU - Arioni, Cesare

AU - Campisi, Corradino

AU - Taddei, Gioconda

AU - Tomà, Paolo

AU - Boccardo, Francesco

AU - Hennekam, Raoul C.

AU - Serra, Giovanni

PY - 2003

Y1 - 2003

N2 - 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. (C) 2003 Wiley-Liss, Inc

AB - 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. (C) 2003 Wiley-Liss, Inc

U2 - https://doi.org/10.1002/ajmg.a.20180

DO - https://doi.org/10.1002/ajmg.a.20180

M3 - Article

C2 - 12794699

SN - 1552-4825

VL - 120A

SP - 92

EP - 96

JO - American journal of medical genetics. Part A

JF - American journal of medical genetics. Part A

IS - 1

ER -