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


OBJECTIVE
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.


CONCLUSIONS
The study confirms increased mortality in patients with CHH attributable to defective immunity, especially in children.
Mäkitie
O
O
Hospital for Children and Adolescents, Helsinki University Hospital.
Pukkala
E
E
Kaitila
I
I
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005387:Finland / Q000453:epidemiology; D005500:Follow-Up Studies; D006197:Hair / Q000002:abnormalities*; D006579:Heterozygote; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics / Q000401:mortality; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000150:complications / Q000235:genetics / Q000401:mortality*; D015996:Survival Rate