PMID: 2109078Apr 1, 1990Paper

Kyphomelic dysplasia: the first 10 cases

Journal of Medical Genetics
P D TurnpennyF N Boulos

Abstract

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 joint mobility, a small thorax and short trunk, a normal cranium and psychomotor development, and a tendency for the bowing to improve with age in survivors. The first born of our cases died of pneumonia at 2 1/2 months of age and is known to us by radiographs only. The second case was under our care from birth. He died aged 13 months after developing a pure red cell aplasia in the second half of infancy, which spontaneously recovered about the time of onset of his final illness. These cases are discussed in relation to previous reports.

References

Sep 1, 1979·Radiology·B D Hall, J W Spranger
Dec 1, 1988·American Journal of Medical Genetics·R D SmartB Fraser
Jun 1, 1986·American Journal of Medical Genetics·D Pitt
Feb 1, 1983·American Journal of Medical Genetics·R N MacleanC B Lozzio

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Citations

Jan 12, 2002·Prenatal Diagnosis·A GualaP Franceschini
Jan 5, 2001·Clinical Genetics·C PrasadE J Ives
Feb 25, 1998·Journal of Medical Genetics·C P ChenF Y Huang
Feb 4, 2012·Clinical Genetics·N A AkawiL Al-Gazali
Nov 21, 2013·Birth Defects Research. Part A, Clinical and Molecular Teratology·Emil SilvasNatalie Patey
Jul 2, 2003·American Journal of Medical Genetics. Part a·Martine Le MerrerPierre Maroteaux
Nov 15, 1993·American Journal of Medical Genetics·L A MooreD D Weaver
Jul 17, 1995·American Journal of Medical Genetics·W T CorderN W Wilson

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