Pediatric Radiology

, Volume 3, Issue 3, pp 169–175

The severe recessive form of pseudoachondroplastic dysplasia

  • Nicholas Robert Dennis
  • Peter Renton
Originals

DOI: 10.1007/BF01006905

Cite this article as:
Dennis, N.R. & Renton, P. Pediatr Radiol (1975) 3: 169. doi:10.1007/BF01006905

Abstract

Genetic and clinical heterogeneity within the category of pseudoachondroplastic dysplasia is discussed. Clinical and radiological findings are presented in a family where 4 out of 7 siblings, aged between 3 and 10 years, had a severe form of the condition. The parents had short stature without any signs of pseudoachondroplastic dysplasia. Inheritance in this family appears to be recessive, with a possibility that the abnormal allele may be partially manifest in heterozygotes.

Key words

Bone dysplasiarecessive inheritanceshort statureheterozygote manifestation

Copyright information

© Springer-Verlag 1975

Authors and Affiliations

  • Nicholas Robert Dennis
    • 1
    • 2
  • Peter Renton
    • 1
    • 2
  1. 1.MRC Clinical Genetics Unit Institute of Child HealthThe Hospital for Sick ChildrenLondonUK
  2. 2.Department of RadiologyThe Hospital for Sick ChildrenLondonUK