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

Am J Med Genet A. 2003 Jul 1;120A(1):92-6. doi: 10.1002/ajmg.a.20180.

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.

Publication types

  • Case Reports

MeSH terms

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