| Mulibrey nanism. | |
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MedLine Citation:
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PMID: 7735507 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Investigation of a 4-year-old boy with 'Russell-Silver-phenotype' led to the relatively rare diagnosis of Mulibrey nanism. Subsequently cardiac investigation confirmed a constrictive pericarditis which is characteristic of this syndrome, although not included in the acronym (muscle, liver, brain, eye). Identification of this syndrome is important for genetic counselling of the parents (25% recurrence risk, McKusick No. 253250). |
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Authors:
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S Balg; S Stengel-Rutkowski; C Döhlemann; K Boergen |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 4 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 1995 Jan |
Date Detail:
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Created Date: 1995-06-07 Completed Date: 1995-06-07 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 63-9 Citation Subset: IM |
Affiliation:
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Department of Genetics, University of Munich, Germany. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Dwarfism / diagnosis*, genetics, pathology Eye Abnormalities / genetics Face / abnormalities Humans Male Pericarditis, Constrictive / genetics Phenotype Syndrome |
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