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Case Reports in Endocrinology
Volume 2017, Article ID 3905905, 4 pages
https://doi.org/10.1155/2017/3905905
Case Report

Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor

1Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, New York University School of Medicine, New York, NY, USA
2Department of Pediatrics, Clinical Genetics Services, New York University School of Medicine, New York, NY, USA

Correspondence should be addressed to Preneet Cheema Brar; gro.cmuyn@rarb.teenerp

Received 6 February 2017; Accepted 23 March 2017; Published 23 May 2017

Academic Editor: Mihail A. Boyanov

Copyright © 2017 Preneet Cheema Brar et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

We present the clinical phenotype of a toddler who presented with vitamin D-resistant rickets, with one of the highest initial levels of alkaline phosphatase and parathyroid hormone (PTH) levels reported in the literature. The toddler had novel compound heterozygous mutations in the ligand-binding site of the vitamin D receptor and had an excellent response to calcitriol (1,25(OH)2D).