title: Early onset lymphoedema, recessive form--a new form of genetic lymphoedema syndrome.
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.
mesh_terms: D002648:Child; D002675:Child, Preschool; D005808:Genes, Recessive; D006801:Humans; D008209:Lymphedema / Q000151:congenital / Q000235:genetics*; D008297:Male; D010641:Phenotype