Document Detail


Autosomal recessive omodysplasia: report of three additional cases.
MedLine Citation:
PMID:  9716634     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Three new cases of autosomal recessive omodysplasia (ARO) are reported. One shows a new finding of craniosynostosis. One is related to a patient previously reported in 1991. Another is the first report of a patient living in Australia. The clinical and radiological findings further consolidate the condition as a distinct and readily diagnosable autosomal recessive bone dysplasia with marked limb shortening and facial abnormalities. These cases bring the total reported to 17. Names used in earlier publications include rhizomelic bone dysplasia with club-like femora, familial generalised micromelia with dislocated radius and congenital micromelic dysplasia (Borochowitz type).
Authors:
J P Masel; K Kozlowski; P Kiss
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pediatric radiology     Volume:  28     ISSN:  0301-0449     ISO Abbreviation:  Pediatr Radiol     Publication Date:  1998 Aug 
Date Detail:
Created Date:  1998-11-30     Completed Date:  1998-11-30     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0365332     Medline TA:  Pediatr Radiol     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  608-11     Citation Subset:  IM    
Affiliation:
Radiology Department, Royal Children's Hospital, Brisbane Queensland 4029, Australia.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*,  radiography
Consanguinity
Craniosynostoses / genetics,  radiography
Facies
Female
Genes, Recessive*
Humans
Infant
Infant, Newborn
Limb Deformities, Congenital / genetics,  radiography
Male
Osteochondrodysplasias / genetics*,  radiography

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


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