Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome.
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.
Gabrielli
O
O
Department of Pediatrics, University of Ancona, Italy.
Catassi
C
C
Carlucci
A
A
Coppa
G V
GV
Giorgi
P
P
D000293:Adolescent; D003241:Consanguinity; D005145:Face / Q000002:abnormalities*; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability; D008201:Lymphangiectasis, Intestinal; D008209:Lymphedema; D008279:Magnetic Resonance Imaging; D008297:Male; D012640:Seizures; D013577:Syndrome