[Vermian agenesis: Report of a family and review of the literature].
Vermian agenesis constitute an heterogeneous group of clinical and neuroradiological entities with different prognosis. Authors report a kindred with vermian agenesis associated to characteristic facial dysmorphy and to mental retardation. After review of the literature, we found no previous description of such an association. We believe this is a new entity of familial vermian agenesis with autosomal recessive transmission.
Gabsi
S
S
Service de Neurologie-Institut National de Neurologie-La Rabta.
Gouider-Khouja
N
N
Mili-Boussen
I
I
Miladi
N
N
Hentati
F
F
D000328:Adult; D001927:Brain Diseases / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities*; D002552:Cerebral Ventricles / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D010375:Pedigree