| Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: a newly recognized syndrome. | |
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MedLine Citation:
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PMID: 1776639 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe a brother and sister and an unrelated boy with congenital cerebellar hypoplasia and endosteal sclerosis. All 3 children presented with ataxia and developmental delay, and were found to have microcephaly, short stature, oligodontia, strabismus, nystagmus, and congenital hip dislocation. A previously published case is reviewed. The disorder appears to represent a newly recognized autosomal recessive syndrome. |
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Authors:
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J Charrow; A K Poznanski; F M Unger; M Robinow |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 41 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1991 Dec |
Date Detail:
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Created Date: 1992-02-28 Completed Date: 1992-02-28 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 464-8 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Northwestern University Medical School, Chicago, Illinois. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Cerebellum
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abnormalities*,
radiography Child Female Genes, Recessive Humans Infant Male Mental Retardation / genetics Osteosclerosis / genetics*, radiography Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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