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.
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 CHHpatients 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.
Authors: T Sulisalo; P Sistonen; J Hästbacka; C Wadelius; O Mäkitie; A de la Chapelle; I Kaitila Journal: Nat Genet Date: 1993-04 Impact factor: 38.330
Authors: Sandy Mattijssen; Ella R Hinson; Carla Onnekink; Pia Hermanns; Bernhard Zabel; Peter Cresswell; Ger J M Pruijn Journal: Cell Mol Life Sci Date: 2010-10-30 Impact factor: 9.261
Authors: Patrick Riley; Dennis S Weiner; Bonnie Leighley; David Jonah; D Holmes Morton; Kevin A Strauss; Michael B Bober; Martin S Dicintio Journal: J Child Orthop Date: 2015-03-13 Impact factor: 1.548