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  • Title: Early onset lymphoedema, recessive form--a new form of genetic lymphoedema syndrome.
    Author: Mücke J, Hoepffner W, Scheerschmidt G, Gornig H, Beyreiss K.
    Journal: Eur J Pediatr; 1986 Aug; 145(3):195-8. PubMed ID: 3769974.
    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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