Article
Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency.
American journal of medical genetics. Part A - 1 Feb 2017
Castilla-Cortázar Inma, Rodríguez De Ita Julieta, Martín-Estal Irene, Castorena Fabiola, Aguirre Gabriel A, García de la Garza Rocío, Elizondo Martha I
Abstract excerpt
Cartilage-hair hypoplasia syndrome (CHH) is a rare autosomal recessive condition characterized by metaphyseal chondrodysplasia and characteristic hair, together with a myriad of other symptoms, being most common immunodeficiency and gastrointestinal complications. A 15-year-old Mexican male initially diagnosed with Hirschsprung disease and posterior immunodeficiency, presents to our department for genetic and...
Topics
- Adolescent
- Biomarkers
- Genetic Association Studies
- Genetic Testing
- Genotype
- Hair
- Hirschsprung Disease
- Humans
- Immunologic Deficiency Syndromes
- Insulin-Like Growth Factor I
- Janus Kinase 2
- Male
- Osteochondrodysplasias