Clinical Orthopaedics and Related Research

, Volume 466, Issue 4, pp 990–996

Case Report

Multiple Fractures in a Patient with Mutations of TWIST1 and TNSALP
  • Florian Barvencik
  • Matthias Gebauer
  • Thorsten Schinke
  • Michael Amling
Case Report Fractures

DOI: 10.1007/s11999-008-0123-9

Cite this article as:
Barvencik, F., Gebauer, M., Schinke, T. et al. Clin Orthop Relat Res (2008) 466: 990. doi:10.1007/s11999-008-0123-9

Abstract

Hypophosphatasia is a rare inherited disorder characterized by defective skeletal mineralization and low alkaline phosphatase activities in the serum. The genetic cause of hypophosphatasia is believed related to inactivating mutations in the TNSALP gene, encoding tissue-nonspecific alkaline phosphatase. Another rare inheritable disease, Saethre-Chotzen syndrome, leads to premature fusion of the cranial sutures caused by heterozygous mutations of the human TWIST1 gene. Because the two disorders apparently are not genetically related (only reported individually) yet both involve defective skeletal formation, we believe it is important to report our findings on a patient harboring mutations of TNSALP and TWIST1.

Copyright information

© The Association of Bone and Joint Surgeons 2008

Authors and Affiliations

  • Florian Barvencik
    • 1
  • Matthias Gebauer
    • 1
  • Thorsten Schinke
    • 1
  • Michael Amling
    • 1
  1. 1.Department of Trauma, Hand, and Reconstructive Surgery and the Department of Experimental Trauma Surgery and Skeletal Biology, Center for BiomechanicsUniversity Medical Center Hamburg-EppendorfHamburgGermany