Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant.

Cases Journal
Ali Al KaissiKlaus Klaushofer

Abstract

Expressionless face associated with multiple contractures has been encountered in an infant. There is a wide range of misconception regarding the categorization of children with multiple contractures among different pediatric disciplines. The fundamental element in categorizing children with multiple contractures is "the etiological understanding". In the absence of concomitant neuromuscular disease, however, the search for other reasons is mandatory. Our present paper signifies the necessity of proper interpretations of unusual clinical and radiographic features. We describe a 3-months-old-infant presented with the phenotypic and the radiographic features consistent with the diagnosis of Stüve-Wiedemann syndrome. We report what might be the first clinical report of Stüve-Wiedemann syndrome from a consanguineous family in Austria. Congenital limitations of the hips in a newborn infant raise the possibility of " Congenital Hip Dislocation". As congenital hip dislocation is a dysplastic process. Here further knowledge by the pediatrician and the orthopaedic surgeon is needed. Our present patient appears to constitute a distinct pathological entity consistent with Stüve-Wiedemann syndrome (SWS). Superti-Furga et al, and Cormier-Da...Continue Reading

References

Aug 28, 1971·Lancet·A Stüve, H R Wiedemann
May 3, 1996·American Journal of Medical Genetics·H R Wiedemann, A Stüve
May 3, 1996·American Journal of Medical Genetics·K Kozlowski, R Tenconi
Oct 23, 1997·American Journal of Medical Genetics·B ChabrolN Philip
Jul 23, 1998·American Journal of Medical Genetics·V Cormier-DaireM Le Merrer
Jul 23, 1998·American Journal of Medical Genetics·A Superti-FurgaA Giedion
Apr 11, 2003·American Journal of Medical Genetics. Part a·M Di RoccoA Superti-Furga
Jul 2, 2003·American Journal of Medical Genetics. Part a·Martine Le MerrerPierre Maroteaux
Aug 12, 2003·American Journal of Medical Genetics. Part a·Annick Raas-RothschildAzaria J J T Rein
Jan 24, 2004·American Journal of Human Genetics·Nathalie DagoneauValérie Cormier-Daire
Aug 25, 2004·Clinical Genetics·V Cormier-DaireM Le Merrer

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Citations

Mar 13, 2014·Orphanet Journal of Rare Diseases·Dawn MikelonisJulia Thom Oxford
Feb 4, 2012·Clinical Genetics·N A AkawiL Al-Gazali
Aug 5, 2021·BMJ Case Reports·Kiran SinghKevin McMillan

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