PMID: 3769974Aug 1, 1986Paper

Early onset lymphoedema, recessive form--a new form of genetic lymphoedema syndrome

European Journal of Pediatrics
J MückeK Beyreiss

Abstract

We report on two brothers with chronic congenital lymphoedema. Besides the oedemas of limbs we found an unusual facial appearance, abnormalities of external genitals as a deformation sequence resulting from intrauterine oedemas and intestinal lymphoedema. This X-linked or autosomal recessive trait may be a new entity, to be differentiated from other genetic lymphoedema syndromes, the so-called familial protein-losing enteropathy, and dominantly inherited intestinal lymphangiectasia. A prominent sign of the syndrome is chemosis and injection of conjunctiva.

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Citations

Sep 12, 2002·Prenatal Diagnosis·Imad R MakhoulMoshe Bronshtein
Sep 29, 2011·American Journal of Medical Genetics. Part a·John S FergusonSahar Mansour
Jun 29, 2010·American Journal of Medical Genetics. Part a·Mary C O'DriscollKaren W Gripp
Oct 31, 1998·Vascular Medicine·A Szuba, S G Rockson
Aug 1, 1991·The Annals of Otology, Rhinology, and Laryngology·G Har-ElM H Weiss
Oct 12, 2002·American Journal of Medical Genetics·Inge D C Van BalkomRaoul C M Hennekam
Feb 20, 2018·Archives of Disease in Childhood·Camilla S HansonAllison Tong
Dec 1, 1989·American Journal of Medical Genetics·R C HennekamA A Tillemans
May 30, 2012·BMC Complementary and Alternative Medicine·Annette LoudonAndrew D Williams
Feb 1, 1996·Scottish Medical Journal·A L Jones, D J Webb
May 1, 1993·Annals of Saudi Medicine·A M AbdullahM Cheriyan

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