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.

• Authors: Carlo Bellini, Massimo Mazzella, Cesare Arioni, Corradino Campisi, Gioconda Taddei, Paolo Tomà, Francesco Boccardo, Raoul C Hennekam, Giovanni Serra
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 120A Issue 1 Pg. 92-6 (Jul 01 2003) ISSN: 1552-4825 [Print] United States
• PMID: 12794699 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2003 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (genetics)
• Child, Preschool
• Chylothorax (congenital, diagnosis, genetics)
• Facies
• Female
• Humans
• Hydrops Fetalis (diagnosis, genetics)
• Lung Diseases (diagnosis, genetics)
• Lymph Nodes (pathology)
• Lymphangiectasis (diagnosis, genetics)
• Lymphedema (diagnosis, genetics)
• Radiography, Thoracic
• Syndrome
• Tomography, X-Ray Computed