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Kyphomelic dysplasia

Known as: BOWING, CONGENITAL, WITH SHORT BONES 
National Institutes of Health

Papers overview

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Review
2003
Review
2003
The heterogeneity of kyphomelic syndromes has been already suggested by Cisarik et al. [1999] and several other authors. The… 
2003
2003
Kyphomelic dysplasia has been described as a generalised skeletal dysplasia characterised by a disproportionate growth, bowing of… 
2000
2000
Follow-up and re-evaluation of four patients originally described as examples of severe infantile "micromelic chondrodysplasia… 
Review
2000
Review
2000
Kyphomelic dysplasia is a rare form of generalized skeletal dysplasia with about 15 cases described so far in the literature. We… 
1999
1999
Abstract Four infants with kyphomelic dysplasia ascertained from three families demonstrate variability within the syndrome. In… 
Review
1999
Review
1999
The authors describe the 17-year follow-up of the (to their knowledge) only adult and only female patient affected with… 
Review
1998
Review
1998
We present the in utero appearances and postmortem radiographic findings of two sib fetuses, a male and a female, with features… 
1995
1995
Kyphomelic dysplasia is a distinct, rare, skeletal dysplasia with short angulated femora, bowing of long bones, short ribs… 
1990
1990
We report two sibs, the ninth and tenth cases of a distinctive familial skeletal dysplasia. Designated kyphomelic dysplasia, the… 
1983
1983
We report on an infant with broad and severely angulated short femora as the most salient manifestation of a generalized skeletal…