International Journal For Multidisciplinary Research

E-ISSN: 2582-2160   •   Impact Factor: 9.24

A Widely Indexed Open Access Peer Reviewed Multidisciplinary Bi-monthly Scholarly International Journal

Call for Paper Volume 8, Issue 2 (March-April 2026) Submit your research before last 3 days of April to publish your research paper in the issue of March-April.
Submit Research Paper Join as a Reviewer

Plagiarism is checked by the leading plagiarism checker TurnItIn

Call for Paper

Volume 8 Issue 2
March-April 2026

Submit your research paper

Indexing Partners
Academia Advanced Sciences Index Bielefeld Academic Search Engine CiteSeer DRJI Google Scholar Independent Search Engine & Directory Network ISI (International Scientific Indexing) Issuu Mendeley Research Networks
RefSeek ResearcherId - Thomson Reuters ResearchGate Scirus Scribd Semantic Scholar UTeM - Universiti Teknikal Malaysia Melaka Wiki for Call for Papers WorldCat Zenodo

A Family History of Schimke or Immuno-osseous Dysplasia: Clinical Features and Management

Author(s) Professeur Dr. NIDALE HAZZAB, Professeur Dr. ASMAE MEHDAOUI, Professeur Dr. SAMIRA EDDAOUIDI, Professeur Dr. KAOUTAR KHABBACH, Professeur Dr. YOUSRA ELBOUSSADNI, Professeur Dr. ABDELLAH OULMAATI
Country Morocco
Abstract Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, progressive nephropathy, immunodeficiency, and distinctive ectodermal features. We report two affected siblings born to consanguineous parents. The first case is a 4-year-old girl presenting with severe disproportionate short stature, lumbar lordosis, facial dysmorphism, coarse hair, hyperpigmented macules, and persistent lymphopenia, with normal renal function. The second case is her 3-year-old brother, who presented with growth retardation, facial dysmorphism, thoracic kyphosis, lumbar lordosis, steroid-resistant nephrotic syndrome, secondary hypothyroidism, and marked T-cell deficiency. An older sibling had previously died from chronic kidney disease, and molecular testing in the family confirmed a SMARCAL1 mutation.
These observations illustrate the phenotypic variability and severity of SIOD and emphasize the importance of early diagnosis, monitoring of immunological and renal functions, and multidisciplinary management to improve outcomes.
Keywords Schimke immuno osseous dysplasia, familial case, growth retardation, rare genetic disease, pediatric nephropathy
Field Médical / Pharmacie
Published In Volume 8, Issue 2, March-April 2026
Published On 2026-03-09
DOI https://doi.org/10.36948/ijfmr.2026.v08i02.70068
View / Download PDF File

Share this



E-ISSN 2582-2160
CrossRef

CrossRef DOI is assigned to each research paper published in our journal.

IJFMR DOI prefix is
10.36948/ijfmr

Downloads
Research Paper Format Copyright Permission Form and Undertaking Form Cover Page Vol 8 Isu 2Cover Page Vol 8 Isu 1Cover Page Vol 7 Isu 6

All research papers published on this website are licensed under Creative Commons Attribution-ShareAlike 4.0 International License, and all rights belong to their respective authors/researchers.

CC-BY-SA Open Access

About IJFMR
Fees & Payment
Current Issue
Publication Archive 		Submit Research Paper
Track Submission Status
Publication Guidelines
Publication Ethics
Peer Review & Plagiarism 		Join as a Reviewer
Editors & Reviewers
Reviewer Referral Program
Get Reviewer Membership Certi. 		Website/Journal Policies
Usage Policy
Content Policies
Privacy Policy
Contact Us +91-9687-828-838 editor@ijfmr.com
Powered by Sky Research Publication and Journals