Literature DB >> 2387087

Abnormalities of the cerebellum in oro-facio-digital syndrome II (Mohr syndrome).

G Annerén1, K H Gustavson, S Jòzwiak, S Kjartansson, B Strömberg.   

Abstract

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.

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Year:  1990        PMID: 2387087     DOI: 10.1111/j.1399-0004.1990.tb03549.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  3 in total

1.  A child with delayed milestones and interesting findings on MR.

Authors:  Sanwar Agrawal
Journal:  BMJ Case Rep       Date:  2010-11-05

2.  The many faces of oral-facial-digital syndrome.

Authors:  E Sukarova-Angelovska; N Angelkova; S Palcevska-Kocevska; M Kocova
Journal:  Balkan J Med Genet       Date:  2012-06       Impact factor: 0.519

3.  Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II).

Authors:  Ali Al Kaissi; Renata Pospischill; Franz Grill; Rudolf Ganger
Journal:  J Clin Med Res       Date:  2015-10-23
  3 in total

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