Literature DB >> 2746619

Kyphomelic dysplasia.

I K Temple1, E M Thompson, C M Hall, G Bridgeman, M E Pembrey.   

Abstract

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 changes in infancy, flared ribs, small thoracic cage, and platyspondyly. The good prognosis regarding motor and intellectual development in this condition is stressed and the association with cleft lip and palate is described for the first time.

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Year:  1989        PMID： 2746619      PMCID： PMC1015651          DOI： 10.1136/jmg.26.7.457

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  6 in total

1.  Heterogeneity in the campomelic syndromes. Long-and short-bone varieties.

Authors:  A Khajavi; R Lachman; D Rimoin; R N Schimke; J Dorst; S Handmaker; A Ebbin; G Perreault
Journal:  Radiology       Date:  1976-09       Impact factor: 11.105

2.  Kyphomelic dysplasia versus femoral hypoplasia--unusual facies syndrome.

Authors:  D Pitt
Journal:  Am J Med Genet       Date:  1986-06

3.  Brief clinical report: skeletal dysplasia with short, angulated femora (kyphomelic dysplasia).

Authors:  R N Maclean; W K Prater; C B Lozzio
Journal:  Am J Med Genet       Date:  1983-02

4.  Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity. Report of the clinical and radiological findings in two siblings.

Authors:  E Rezza; G Iannaccone; D Lendvai
Journal:  Pediatr Radiol       Date:  1984

5.  Familial congenital bowing with short bones.

Authors:  B D Hall; J W Spranger
Journal:  Radiology       Date:  1979-09       Impact factor: 11.105

6.  The femoral hypoplasia-unusual facies syndrome.

Authors:  J Burn; R M Winter; M Baraitser; C M Hall; J Fixsen
Journal:  J Med Genet       Date:  1984-10       Impact factor: 6.318
  6 in total
  2 in total

1.  Kyphomelic dysplasia.

Authors:  M A O'Reilly; C M Hall
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

Review 2.  Kyphomelic dysplasia in two sib fetuses.

Authors:  C P Chen; S R Chern; S L Shih; C Y Chuang; F Y Huang
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318
  2 in total

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