Article
Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.
Clinical genetics - 1 Aug 2017
Klemetti P, Valta H, Kostjukovits S, Taskinen M, Toiviainen-Salo S, Mäkitie O
Abstract excerpt
The manifestations of cartilage-hair hypoplasia (CHH), a metaphyseal chondrodysplasia caused by RMRP mutations, include short stature, hypoplastic hair, immunodeficiency and increased risk of malignancies. Clinical features show significant variability. We report a patient with normal height until age 12.5 years (-1.6 SDS at 11 years) who was diagnosed with CHH at 14 years. RMRP sequencing revealed compound...
Topics
- Adult
- Body Height
- Child
- Genetic Predisposition to Disease
- Genotype
- Hair
- Hirschsprung Disease
- Humans
- Immunologic Deficiency Syndromes
- Male
- Osteochondrodysplasias
- Primary Immunodeficiency Diseases
- RNA, Long Noncoding
- Radiography
- Young Adult