Background-Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondr
odysplasia with severe growth failure and impaired immunity. Impaired immun
ity 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-affecte
d 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 th
e non-affected sibs was similar to that in the general population.
Conclusion-The study confirms increased mortality in patients with CHH attr
ibutable to defective immunity, especially in children.