Stüve-Wiedemann syndrome and related bent bone dysplasias

N. A. Akawi, B. R. Ali, L. Al-Gazali

Research output: Contribution to journalReview articlepeer-review

20 Citations (Scopus)

Abstract

Stüve-Wiedemann syndrome (SWS) is a severe congenital skeletal dysplasia associated with life threatening dysautonomic manifestations. Newborns affected with this condition exhibit distinctive shortening and bowing of the long bones with reduced bone volume. The majority of affected newborns die early due to neuromuscular complications namely hyperthermia, apnea, and swallowing difficulties. In this review, we provide an overall picture on the clinical, including long-term management, molecular and cellular aspects of SWS and discuss briefly other related bent bone dysplasias.

Original languageEnglish
Pages (from-to)12-21
Number of pages10
JournalClinical Genetics
Volume82
Issue number1
DOIs
Publication statusPublished - Jul 2012

Keywords

  • Bent bone
  • Bone dysplasia
  • Campomelic dysplasia
  • Cytokine
  • Kyphomelic dysplasia
  • LIFR
  • SOX9
  • Stüve
  • Wiedemann syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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