Document Detail

A new type of lethal short-limbed dwarfism.
MedLine Citation:
PMID:  2748234     Owner:  NLM     Status:  MEDLINE    
Details are presented of a most unusual osteo-chondrodysplasia which presents with lethal neonatal short-limbed dwarfism, defective ossification and nodular calcification within cartilage. The features resemble one case previously described in the literature. We wish to present a new type of lethal short-limbed dwarfism which has presented in one family. Three affected infants have been born to unaffected parents who are first cousins. The third affected infant is reported in detail and the radiological signs of all three sibs are summarised in Table 1. There are also two healthy children, a boy and a girl, born at term.
E R Nairn; S Chapman
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric radiology     Volume:  19     ISSN:  0301-0449     ISO Abbreviation:  Pediatr Radiol     Publication Date:  1989  
Date Detail:
Created Date:  1989-08-16     Completed Date:  1989-08-16     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0365332     Medline TA:  Pediatr Radiol     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  253-7     Citation Subset:  IM    
Department of Histopathology, Children's Hospital, Birmingham, UK.
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MeSH Terms
Infant, Newborn
Osteochondrodysplasias / radiography*
Thanatophoric Dysplasia / pathology,  radiography*

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