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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
Kyphomelic dysplasia has been described as a generalised skeletal dysplasia characterised by a disproportionate growth, bowing of… Expand
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2000
2000
Follow-up and re-evaluation of four patients originally described as examples of severe infantile "micromelic chondrodysplasia… Expand
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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
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1999
1999
Abstract Four infants with kyphomelic dysplasia ascertained from three families demonstrate variability within the syndrome. In… Expand
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1999
1999
Kyphomelic dysplasia (KD) is a rare autosomal recessive entity characterized by shortening and bowing of the limbs, skin dimples… Expand
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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
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1995
1995
Kyphomelic dysplasia is a distinct, rare, skeletal dysplasia with short angulated femora, bowing of long bones, short ribs… Expand
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1990
1990
We report two sibs, the ninth and tenth cases of a distinctive familial skeletal dysplasia. Designated kyphomelic dysplasia, the… Expand
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1989
1989
A case of kyphomelic dysplasia is reported in a boy followed up over three years. The most striking feature of this recessively… Expand
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1983
1983
We report on an infant with broad and severely angulated short femora as the most salient manifestation of a generalized skeletal… Expand
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