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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)92-96
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume120 A
Issue number1
Publication statusPublished - Jul 1 2003

Keywords

  • Chylothorax
  • Hennekam syndrome
  • Nonimmune hydrops fetalis
  • Pulmonary lymphangiectasia

ASJC Scopus subject areas

  • Genetics(clinical)

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