Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: Further case of Hennekam syndrome with a severe phenotype

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.