Case Report
Copyright ©The Author(s) 2016. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Orthop. Dec 18, 2016; 7(12): 839-842
Published online Dec 18, 2016. doi: 10.5312/wjo.v7.i12.839
Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family
Andreas Leonidou, Melita Irving, Simon Holden, Marcos Katchburian
Andreas Leonidou, Marcos Katchburian, Department of Trauma and Orthopaedic Surgery, Maidstone and Tunbridge Wells NHS Trust, Tunbridge Wells TN2 4QJ, United Kingdom
Melita Irving, Department of Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust, London SE1 9RT, United Kingdom
Simon Holden, Department of Clinical Genetics, Addenbrookes Hospital, Cambridge CB2 0QQ, United Kingdom
Author contributions: Leonidou A, Irving M, Holden S and Katchburian M equally made substantial contributions to the conception and design of the paper, acquisition - analysis and interpretation of data; all authors drafted the article and made critical revisions related to the intellectual content of the manuscript and approved the final version of the article to be published.
Informed consent statement: Consent was taken from the patients for their history analysis and genetic testing.
Conflict-of-interest statement: No conflict of interest exists.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Correspondence to: Andreas Leonidou, PgDip, MSc, FRCS(Orth), Specialist Registrar, Department of Trauma and Orthopaedic Surgery, Maidstone and Tunbridge Wells NHS Trust, Tonbridge Road, Pembury, Tunbridge Wells TN2 4QJ, United Kingdom.
Telephone: +44-1892-635986 Fax: +44-1892-634829
Received: January 13, 2016
Peer-review started: January 15, 2016
First decision: March 25, 2016
Revised: August 15, 2016
Accepted: September 21, 2016
Article in press: September 23, 2016
Published online: December 18, 2016
Core Tip

Core tip: This report highlights the importance of thorough history taking, including a three generation family history, and detailed clinical examination of children with fixed planovalgus feet and other family members to detect rare skeletal dysplasia conditions causing pain and deformity, and provides details of the spectrum of problems associated with SYM1B.