Stüve-Wiedemann syndrome: Long-term follow-up and genetic heterogeneity

C. Jung, N. Dagoneau, G. Baujat, M. Le Merrer, A. David, M. Di Rocco, B. Hamel, A. Mégarbané, A. Superti-Furga, S. Unger, A. Munnich, V. Cormier-Daire

Research output: Contribution to journalArticlepeer-review

Abstract

Stüve-Wiedemann syndrome (SWS, OMIM 601559) is a severe autosomal recessive condition caused by mutations in the leukemia inhibitory receptor (LIFR) gene. The main characteristic features are bowing of the long bones, neonatal respiratory distress, swallowing/sucking difficulties and dysautonomia symptoms including temperature instability often leading to death in the first years of life. We report here four patients with SWS who have survived beyond 36 months of age with no LIFR mutation. These patients have been compared with six unreported SWS survivors carrying null LIFR mutations. We provide evidence of clinical homogeneity of the syndrome in spite of the genetic heterogeneity.

Original languageEnglish
Pages (from-to)266-272
Number of pages7
JournalClinical Genetics
Volume77
Issue number3
DOIs
Publication statusPublished - Mar 2010

Keywords

  • Follow-up
  • Genetic heterogeneity
  • LIFR
  • Long-term
  • Stüve
  • Wiedemann syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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