[Incomplete Bardet-Biedl syndrome associated with cerebellar ataxia].
A case of incomplete Bardet-Biedl syndrome was observed in a woman aged 33 years. The syndrome was associated with cerebellar atrophy. The authors suggest that the pathogenetic cause of the syndrome was a teratogenic effect of quinine during organogenesis while cerebellar atrophy was due probably to metabolic disturbances.
Kowal
P
P
Katedry i Kliniki Neurologii AM w Poznaniu.
Sikora
G
G
D000328:Adult; D002524:Cerebellar Ataxia / Q000150:complications*; D005260:Female; D006801:Humans; D007849:Laurence-Moon Syndrome / Q000145:classification / Q000150:complications / Q000175:diagnosis*
Niepełny zespół Bardet-Biedla ze współistniejacym zanikiem móźdźku.