Long‑term survival after corrective surgeries in two patients with severe deformities due to Roberts syndrome: A Case report and review of the literature

  • Authors:
    • Jing Zhou
    • Xiaonan Yang
    • Xiaolei Jin
    • Zhenhua Jia
    • Haibin Lu
    • Zuoliang Qi
  • View Affiliations

  • Published online on: December 5, 2017     https://doi.org/10.3892/etm.2017.5592
  • Pages:1702-1711
Metrics: HTML 0 views | PDF 0 views     Cited By (CrossRef): 0 citations

Abstract

Roberts syndrome (RBS; OMIM 268300) is a rare autosomal recessive disease characterized by retardation before and after birth, cranial and maxillofacial deformities, limb anomalies and intellectual disability. Mutations in the establishment of cohesion 1 homologue 2 (ESCO2) gene on chromosome 8p21.1 have been found to be causative for RBS. We describe two patients with RBS with physical deformities and ll. One is an 8‑year‑old Yemeni male, and the other is his 13‑year‑old sister. These patients were diagnosed with RBS and underwent surgeries during their first to third years of life. Here, we present the cases for the two patients, focusing specifically on their surgical management and outcomes. Additionally, by reviewing the literature on RBS, we also summarize the proper surgical interventions for this rare disease. This paper describes the long‑term follow‑up of two patients with severe deformities who benefitted from corrective surgeries. The findings of this study indicate that patients who survive infancy and reach adulthood, even patients who present with severe disease symptoms, can benefit from corrective surgeries and lead better lives.

Related Articles

Journal Cover

February 2018
Volume 15 Issue 2

Print ISSN: 1792-0981
Online ISSN:1792-1015

2016 Impact Factor: 1.261
Ranked #50/128 Medicine Research and Experimental
(total number of cites)

Sign up for eToc alerts

Recommend to Library

Copy and paste a formatted citation
APA
Zhou, J., Yang, X., Jin, X., Jia, Z., Lu, H., & Qi, Z. (2018). Long‑term survival after corrective surgeries in two patients with severe deformities due to Roberts syndrome: A Case report and review of the literature. Experimental and Therapeutic Medicine, 15, 1702-1711. https://doi.org/10.3892/etm.2017.5592
MLA
Zhou, J., Yang, X., Jin, X., Jia, Z., Lu, H., Qi, Z."Long‑term survival after corrective surgeries in two patients with severe deformities due to Roberts syndrome: A Case report and review of the literature". Experimental and Therapeutic Medicine 15.2 (2018): 1702-1711.
Chicago
Zhou, J., Yang, X., Jin, X., Jia, Z., Lu, H., Qi, Z."Long‑term survival after corrective surgeries in two patients with severe deformities due to Roberts syndrome: A Case report and review of the literature". Experimental and Therapeutic Medicine 15, no. 2 (2018): 1702-1711. https://doi.org/10.3892/etm.2017.5592