[Klippel-Feil syndrome. Description of a case associated with familial mental retardation].
The authors describe a case of Klippel-Feil syndrome with involvement of the cervical spine and severe mental deficiency which was also present in many relatives of the maternal side. It is discussed as this mental deficiency could be due either to the syndrome itself or to a nonspecific X-linked mental retardation.
Ospedale Provinciale di Melegnano, Divisione di Pediatria, Vizzolo Predabissi, Milano, Italia.
E
E
Pizzi
A
A
Andreoli
D
D
Baronciani
G
G
Bonora
D
D
Manzoni
L
L
Perletti
D000293:Adolescent; D002574:Cervical Vertebrae / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D007714:Klippel-Feil Syndrome / Q000150:complications* / Q000000981:diagnostic imaging; D011859:Radiography
Sindrome di Klippel-Feil. Descrizione di un caso associato a ritardo mentale familiare.