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  • Title: Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.
    Author: Hennekam RC, Geerdink RA, Hamel BC, Hennekam FA, Kraus P, Rammeloo JA, Tillemans AA.
    Journal: Am J Med Genet; 1989 Dec; 34(4):593-600. PubMed ID: 2624276.
    Abstract:
    We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small mouth, tooth anomalies, and ear defects. Their parents are consanguineous. This disorder probably is an hitherto undescribed autosomal recessive syndrome.
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