Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency

详细信息    查看全文

• 作者：Inma Castilla-Cortá ; zar ; Julieta Rodr&iacute ; guez De Ita ; Irene Mart&iacute ; n-Estal ; Fabiola Castorena ; Gabriel A. Aguirre ; Roc&iacute ; o Garc&iacute ; a de la Garza and Martha I. Elizondo
• 刊名：American Journal of Medical Genetics Part A
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：173
• 期：2
• 页码：537-540
• 全文大小：298K
• ISSN：1552-4833

文摘

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.