Kyphomelic dysplasia

Known as: Bowing, congenital, with short bones 
 

Topic mentions per year

Topic mentions per year

1989-2002
0119892002

Papers overview

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2002
2002
Sir, Until the cause of a skeletal dysplasia has been elucidated, its differential diagnosis should be based mainly on the… (More)
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Review
2001
Review
2001
Kyphomelic dysplasia (KD) is a rare autosomal recessive entity characterized by disproportionate dwarfism with shortening and… (More)
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Review
2001
Review
2001
 
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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… (More)
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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… (More)
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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… (More)
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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… (More)
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1995
1995
Kyphomelic dysplasia is a distinct, rare, skeletal dysplasia with short angulated femora, bowing of long bones, short ribs… (More)
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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… (More)
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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… (More)
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