| Additional case of opsismodysplasia supporting autosomal recessive inheritance. | |
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MedLine Citation:
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PMID: 8209898 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The authors describe clinical and radiological findings in a 2-year-old boy from consanguineous parents. A diagnosis of opsi(s)modysplasia (= delayed maturation) had been made (MIM 258480). The purpose of this paper is to draw attention to the striking radiological manifestations. Consanguinity in the parents of our case and occurrence in a brother and sister in a previous report support an autosomal recessive transmission. |
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Authors:
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F A Beemer; K S Kozlowski |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: American journal of medical genetics Volume: 49 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1994 Feb |
Date Detail:
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Created Date: 1994-07-08 Completed Date: 1994-07-08 Revised Date: 2005-11-16 |
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: 344-7 Citation Subset: IM |
Affiliation:
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Clinical Genetics Center Utrecht, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Bone Diseases, Developmental
/
complications,
diagnosis,
genetics* Child, Preschool Consanguinity Facial Bones / abnormalities Genes, Recessive Humans Male Muscle Hypotonia / complications, genetics Respiratory Tract Infections / etiology Skull / abnormalities |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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