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Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: Confirmation of the Hennekam syndrome

1991; Wiley; Volume: 40; Issue: 2 Linguagem: Inglês

10.1002/ajmg.1320400223

1096-8628

Orazio Gabrielli, Carlo Catassi, A. Carlucci, Giovanni V. Coppa, Pierluigi Giorgi,

Cystic Fibrosis Research Advances

Abstract We report on a male with intestinal lymphangiectasia, mild mental retardation, seizures, and a typical face; the syndrome was first delineated by Hennekam et al., Am. J. Med. Genet. 34:593‐600 [1989]. His parents are consanguineous. This case seems to confirm the existence of the Hennekam syndrome.