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.
Forzano
F
F
Laboratory of Human Genetics, Galliera Hospital, Genoa, Italy. f.forzano@galliera.it
Faravelli
F
F
Loy
A
A
Di Rocco
M
M
D000015:Abnormalities, Multiple; D000293:Adolescent; D004827:Epilepsy / Q000209:etiology; D005145:Face / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008201:Lymphangiectasis, Intestinal / Q000151:congenital*; D008208:Lymphatic System / Q000002:abnormalities; D008209:Lymphedema / Q000151:congenital* / Q000235:genetics / Q000601:surgery; D008297:Male; D012008:Recurrence; D013577:Syndrome