Abnormalities of the cerebellum in oro-facio-digital syndrome II (Mohr syndrome)
| Autor: | Göran Annerén, B. Strömberg, S. Kjartansson, K.-H. Gustavson, S. Jòzwiak |
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| Rok vydání: | 1990 |
| Předmět: |
Male
Pathology medicine.medical_specialty Cerebellum Genes Recessive Internal medicine Genetics medicine Humans Abnormalities Multiple Genetics (clinical) Syndrome type business.industry Infant Newborn Mohr syndrome Orofaciodigital Syndromes medicine.disease medicine.anatomical_structure Endocrinology nervous system Feature (computer vision) Cerebellar atrophy Female Cerebellar hypoplasia (non-human) business Tomography X-Ray Computed |
| Zdroj: | Clinical genetics. 38(1) |
| ISSN: | 0009-9163 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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