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Case Reports
. 2013 Nov;32(6):409-12.
doi: 10.1007/s12664-013-0358-6. Epub 2013 Aug 17.

Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype

Ankur Singh  1 , Rajeshwari Krishnan, Malobika Bhattacharya, Gaurav Pradhan, Ulrich Salzer, Seema Kapoor
Affiliations
Case Reports

Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype

Ankur Singh et al. Indian J Gastroenterol. 2013 Nov.

Abstract

Cartilage hair hypoplasia is a genetic disease, characterized by generalized metaphyseal dysplasia mainly affecting the knee joints. Variable extraskeletal features like anemia, malabsorption, impaired spermatogenesis, impaired immunity, and malignancies have been reported. The work up of malabsorption and short stature led to the diagnosis of celiac disease in three previous cases of cartilage hair hypoplasia. Here, we report an Indian girl with a novel genotype, diagnosed as celiac disease with cartilage hair hypoplasia, and review the previous three cases.

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