Delayed diagnosis in Vitamin D – dependent rickets type II results in severe skeletal deformities Authors Erum Sohail Medicell Institute of Diabetes Endocrinology & Metabolism (MIDEM), Karachi, Pakistan Tasnim Ahsan Medicell Institute of Diabetes Endocrinology & Metabolism (MIDEM), Karachi, Pakistan Rukhshanda Jabeen Department of Medicine, Jinnah Postgraduate Medical College, Karachi, Pakistan Urooj Lal Rehman Department of Endocrinology, Jinnah Postgraduate Medical College, Karachi, Pakistan Saima Ghaus Medicell Institute of Diabetes Endocrinology & Metabolism (MIDEM), Karachi, Pakistan DOI: https://doi.org/10.47391/JPMA.5266 Abstract Vitamin D-dependent Rickets Type II (VDDR-II) is a rare autosomal recessive disorder caused by a vitamin D receptor gene mutation, leading to end-organ resistance to 1,25-dihydroxyvitamin D 1,25(OH)2D. We aimed to investigate two cases of VDDR-II. Case 1 was of a 14-year old male, presenting with bone pains, bowing of legs, multiple bone deformities, and fractures since childhood. On examination, Chvostek's and Trousseau's signs were positive, and there was no alopecia. Case 2 was a 15-year old male who presented with pain in both legs since childhood and difficulty in walking lately. Upon investigation, it was found that bowing of legs, and Chvostek's and Trousseau's signs were positive. Both cases had severe hypocalcaemia, normal/low phosphate levels, and high alkaline phosphatase (ALP). ---Continue Downloads Full Text Article Published 2022-11-15 How to Cite Sohail, E., Ahsan, T., Jabeen, R. ., Rehman , U. L., & Ghaus, S. . (2022). Delayed diagnosis in Vitamin D – dependent rickets type II results in severe skeletal deformities. Journal of the Pakistan Medical Association, 72(12), 2528–2530. https://doi.org/10.47391/JPMA.5266 More Citation Formats ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver Download Citation Endnote/Zotero/Mendeley (RIS) BibTeX Issue Vol. 72 No. 12 (2022): DECEMBER Section CASE SERIES