Document Detail


Prenatal diagnosis of perinatally lethal osteogenesis imperfecta.
MedLine Citation:
PMID:  6837630     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Prenatal diagnosis of osteogenesis imperfecta was achieved at 17 weeks of gestation using ultrasound through recognition of low echogenic properties of all the bones, abnormally shaped skull, bell-shaped rib cage, distally thinned ribs, short and deformed long bones, wide metaphyses, and thin diaphyses. Severely limited abnormal movements, abnormal positioning of the lower limbs also were typical of the condition. The recognition of the signs reported in this paper will allow the identification of the condition in utero in the second trimester.
Authors:
B R Elejalde; M M de Elejalde
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  14     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1983 Feb 
Date Detail:
Created Date:  1983-05-05     Completed Date:  1983-05-05     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  353-9     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Female
Humans
Osteogenesis Imperfecta / diagnosis*,  genetics
Pregnancy
Pregnancy Trimester, Second
Prenatal Diagnosis*
Ultrasonography*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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