Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations

Kerstin Reicherter, Amithkumar Iynapillai Veeramani, Sujatha Jagadeesh
2011 Indian Pediatrics  
Cartilage-hair hypoplasia is a rare, autosomal recessive skeletal dysplasia, caused by mutations in the RMRP gene. The skeletal abnormalities include irregular metaphyses and cone shaped epiphyses of the hands. Molecular diagnosis confirmed two novel RMRP mutations in a compound heterozygous state in two siblings with this condition. Cogan syndrome is a syndrome of non-syphilitic interstitial keratitis associated with vestibuloauditory deficits. We report a 10 year-old male child who presented
more » ... hild who presented with fever, acute polyarthritis, and unilateral red eye and was diagnosed as acute rheumatic fever. Subsequently unilateral hearing loss was detected and the child was diagnosed to have atypical Cogan syndrome.
doi:10.1007/s13312-011-0086-x pmid:21813924 fatcat:j56vidiqjbapnieoidert6eeam