Kyphomelic dysplasia.
- 1 July 1989
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 26 (7) , 457-461
- https://doi.org/10.1136/jmg.26.7.457
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.Keywords
This publication has 7 references indexed in Scilit:
- Reply to Dr. PittAmerican Journal of Medical Genetics, 1986
- Kyphomelic dysplasia versus femoral hypoplasia–unusual facies syndromeAmerican Journal of Medical Genetics, 1986
- The femoral hypoplasia-unusual facies syndrome.Journal of Medical Genetics, 1984
- Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entityPediatric Radiology, 1984
- Skeletal dysplasia with short, angulated femora (kyphomelic dysplasia)American Journal of Medical Genetics, 1983
- Familial Congenital Bowing with Short BonesRadiology, 1979
- Heterogeneity in the Campomelic SyndromesRadiology, 1976