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Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene. We report the case of an infant presenting with alopecia, growth failure, and gross motor developmental delay. Serum biochemistry and skeletal survey were consistent with rickets. After a poor response to standard treatment, genetic testing confirmed a c.147-2A>T novel mutation in the VDR gene consistent with HVDRR. It is important for dermatologists and pediatricians to recognize alopecia as a presenting sign of HVDRR because appropriate treatment leads to better growth and development of the child. © 2014 Wiley Periodicals, Inc.

Original publication




Journal article


Pediatric Dermatology

Publication Date





519 - 520