Annerén G, Gustavson K H, Jòzwiak S, Kjartansson S, Strömberg B
Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
Clin Genet. 1990 Jul;38(1):69-73. doi: 10.1111/j.1399-0004.1990.tb03549.x.
Two patients with oro-facio-digital syndrome type II (OFD-II, Mohr syndrome) with associated cerebellar atrophy are described. Three other cases of the Mohr syndrome with cerebellar abnormalities are cited from the literature. Cerebellar involvement seems to be a clinical feature of this syndrome. Unfortunately, there is a lack of CNS reports for many of the previously described patients. In all cases with this entity, careful neurological and radiological examinations of the cerebellum are recommended.