Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 173, Issue 2, Pages 537-540Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.38052
Keywords
cartilage-hair hypoplasia; IGF-1; RMRP gene; GHR
Categories
Funding
- Fundacion de Investigacion HM Hospitales
- Tecnologico de Monterrey
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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 complementary evaluation for suspected CHH. Physical, biochemical, and genetic studies confirmed CHH together with IGF-1 deficiency. For this reason, we propose IGF-1 replacement therapy for its well-known actions on hematopoiesis, immune function and maturation, and metabolism. (c) 2016 Wiley Periodicals, Inc.
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