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