Kyphomelic dysplasia

Common Name(s)

Kyphomelic dysplasia, Bowing Congenital Short Bones

Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized by the following: a disproportionately short stature with a short narrow chest, shortening and bending (bowing) of the limbs, flared irregular metaphyses of the bones, and characteristic facial features.  Bone changes are said to improve with age. Kyphomelic dysplasia is inherited in an autosomal recessive pattern.   

Recent studies indicate that Kyphomelic dysplasia is no longer considered it's own entity and that individual cases should be further evaluated and re-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Kyphomelic dysplasia" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Kyphomelic dysplasia" returned 3 free, full-text research articles on human participants. First 3 results:

Kyphomelic dysplasia.
 

Author(s): M A O'Reilly, C M Hall

Journal: J. Med. Genet.. 1994 May;31(5):423.

 

Last Updated: 22 Sep 1994

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Kyphomelic dysplasia: the first 10 cases.
 

Author(s): P D Turnpenny, R A Dakwar, F N Boulos

Journal: J. Med. Genet.. 1990 Apr;27(4):269-72.

 

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 ...

Last Updated: 23 May 1990

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Kyphomelic dysplasia.
 

Author(s): I K Temple, E M Thompson, C M Hall, G Bridgeman, M E Pembrey

Journal: J. Med. Genet.. 1989 Jul;26(7):457-61.

 

A case of kyphomelic dysplasia is reported in a boy followed up over three years. The most striking feature of this recessively inherited generalised bone dysplasia is marked angulation of the femora, associated with short stature, bowing and shortening of other long bones, metaphyseal ...

Last Updated: 25 Aug 1989

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Kyphomelic dysplasia" returned 1 free, full-text review articles on human participants. First 3 results:

Kyphomelic dysplasia in two sib fetuses.
 

Author(s): C P Chen, S R Chern, S L Shih, C Y Chuang, F Y Huang

Journal: J. Med. Genet.. 1998 Jan;35(1):65-9.

 

We present the in utero appearances and postmortem radiographic findings of two sib fetuses, a male and a female, with features suggestive of kyphomelic dysplasia. The fetuses had severe bowing of the long bones, short, flared ribs, platyspondyly, metaphyseal flaring, skin dimpling, ...

Last Updated: 26 Mar 1998

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