Severe lymphedema,intestinal lymphangiectasia,seizures and mild mental retardation: Further case of Hennekam syndrome with a severe phenotype |
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Authors: | F. Faravelli A. Loy M. Di Rocco |
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Affiliation: | 1. Laboratory of Human Genetics, Galliera Hospital, Genoa, Italy;2. II Department of Pediatrics, Gaslini Hospital, Genoa, Italy |
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Abstract: | We report on an Italian patient affected by severe lymphedema of lower limbs, genitalia and face, intestinal lymphangiectasia, seizures, and moderate mental retardation. He has a flat face, flat nasal bridge, and hypertelorism. We propose that he presents with a severe form of Hennekam syndrome. © 2002 Wiley‐Liss, Inc. |
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Keywords: | Hennekam syndrome elephantiasis intestinal lymphangiectasia seizures |
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