Abstract

Schimke-Immuno-Osseous Dysplasia (SIOD) is a rare multisystem progressive disorder which has an autosomal recessive inheritance pattern. This disorder can present with disproportionate short stature, spondyloepiphyseal dysplasia, progressive renal disease, and signs and symptoms of impaired cellular immunity. In this report we present a case of SIOD, the second child of consanguineous (3rd degree) Iranian parents. A five-year-old girl was referred for evaluation of growth retardation. The patient had normal development but the growth rate was slower than normal. The case had the typical manifestation of SIOD which presented first by growth failure (11.3 kg and 86 cm-below 5 percentile for weight and height). Molecular genetic testing indicated biallelic pathogenic variants in SMARCAL1. The most important thing about the case was her parental consanguinity and having a sister with nephrotic syndrome who died early in life. It is recommended that in the cases with poor growth and such a suspected family history the diagnosis of SIOD should be kept in mind and further evaluations should be performed. In addition, proper short-interval follow up is recommended for cases with diagnosis of SIOD in order to have a better evaluation and management of the disease related complication. © 2018, Journal of Clinical and Diagnostic Research. All rights reserved.