Document Detail


Additional case of opsismodysplasia supporting autosomal recessive inheritance.
MedLine Citation:
PMID:  8209898     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
F A Beemer; K S Kozlowski
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  49     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1994 Feb 
Date Detail:
Created Date:  1994-07-08     Completed Date:  1994-07-08     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  344-7     Citation Subset:  IM    
Affiliation:
Clinical Genetics Center Utrecht, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
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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