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Kyphomelic dysplasia

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

Papers overview

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2003
2003
Severe localized and symmetric bowing of the femora, in the absence of other significant skeletal or nonskeletal abnormalities… Expand
2003
2003
Kyphomelic dysplasia has been described as a generalised skeletal dysplasia characterised by a disproportionate growth, bowing of… Expand
Review
2001
Review
2001
  • K. Iwasaki
  • Ryoikibetsu shokogun shirizu
  • 2001
  • Corpus ID: 6576569
 
2000
2000
Follow-up and re-evaluation of four patients originally described as examples of severe infantile "micromelic chondrodysplasia… Expand
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… Expand
1999
1999
Abstract Four infants with kyphomelic dysplasia ascertained from three families demonstrate variability within the syndrome. In… Expand
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… Expand
1995
1995
Kyphomelic dysplasia is a distinct, rare, skeletal dysplasia with short angulated femora, bowing of long bones, short ribs… Expand
1990
1990
We report two sibs, the ninth and tenth cases of a distinctive familial skeletal dysplasia. Designated kyphomelic dysplasia, the… Expand
1983
1983
We report on an infant with broad and severely angulated short femora as the most salient manifestation of a generalized skeletal… Expand