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. 2001 Jan;84(1):65-67.
doi: 10.1136/adc.84.1.65.

Increased mortality in cartilage-hair hypoplasia

O Mäkitie  1 , E Pukkala, I Kaitila
Affiliations

Increased mortality in cartilage-hair hypoplasia

O Mäkitie et al. Arch Dis Child. 2001 Jan.

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.

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