Article Text

PDF

Increased mortality in cartilage–hair hypoplasia

Abstract

BACKGROUND Cartilage–hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia with severe growth failure and impaired immunity. Impaired immunity may result in increased mortality.

AIMS To follow a cohort of 120 CHH patients for mortality from 1971 to 1995.

METHODS The overall and cause specific disease mortality rates in patients with CHH, and the disease mortality rate in 194 parents and 158 non-affected sibs were compared with the national rates.

RESULTS During follow up seven disease related deaths were observed versus 0.8 expected (standardised mortality ratio 9.3, 95% confidence interval 3.7 to 19). In most cases, the deaths were confined to the younger age groups and associated with defective immunity. The mortality of the parents and the non-affected sibs was similar to that in the general population.

CONCLUSION The study confirms increased mortality in patients with CHH attributable to defective immunity, especially in children.

  • metaphyseal chondrodysplasia
  • immunodeficiency
  • mortality
View Full Text

Statistics from Altmetric.com

Footnotes

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.