Document Detail

Kyphomelic dysplasia: the first 10 cases.
MedLine Citation:
PMID:  2109078     Owner:  NLM     Status:  MEDLINE    
We report two sibs, the ninth and tenth cases of a distinctive familial skeletal dysplasia. Designated kyphomelic dysplasia, the condition is a short limbed dwarfism characterised by very short angulated femora, variable bowing of other long bones, irregular, flared metaphyses, restricted joint mobility, a small thorax and short trunk, a normal cranium and psychomotor development, and a tendency for the bowing to improve with age in survivors. The first born of our cases died of pneumonia at 2 1/2 months of age and is known to us by radiographs only. The second case was under our care from birth. He died aged 13 months after developing a pure red cell aplasia in the second half of infancy, which spontaneously recovered about the time of onset of his final illness. These cases are discussed in relation to previous reports.
P D Turnpenny; R A Dakwar; F N Boulos
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  27     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1990 Apr 
Date Detail:
Created Date:  1990-05-23     Completed Date:  1990-05-23     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  269-72     Citation Subset:  IM    
Paediatric Department, Nazareth Hospital, EMMS, Israel.
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MeSH Terms
Dwarfism / complications,  diagnosis*
Osteochondrodysplasias / complications,  diagnosis*
Red-Cell Aplasia, Pure / etiology
Thorax / abnormalities

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