Literature DB >> 8723081

Stüve-Wiedemann dysplasia in a 3 1/2-year-old boy.

K Kozlowski1, R Tenconi.   

Abstract

Stüve-Wiedemann osteochondrodysplasia is a rare disorder with distinct clinical and diagnostic radiographic findings. The condition is classified as a bent-bone dysplasia with early, lethal outcome. We report on a boy with Stüve-Wiedemann syndrome who is well and alive at the age of 3 1/2 years.

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Mesh：

Year:  1996        PMID： 8723081     DOI： 10.1002/(SICI)1096-8628(19960503)63:1<17::AID-AJMG6>3.0.CO;2-P

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  7 in total

1.  Case report of prenatal diagnosis of Stüve-Wiedemann Syndrome in a woman with another child affected too.

Authors:  Anita Catavorello; Salvatore Giovanni Vitale; Diego Rossetti; Lisa Caldaci; Marco Marzio Panella
Journal:  J Prenat Med       Date:  2013-07

2.  Rhabdomyolysis in Stuve-Wiedemann syndrome.

Authors:  Pemantah Sandheeah Ramdeny; Colin Powell; Mallinath Chakraborty; Louise Hartley
Journal:  BMJ Case Rep       Date:  2018-02-08

3.  Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.

Authors:  Jana Herholz; Alessandra Meloni; Mara Marongiu; Francesca Chiappe; Manila Deiana; Carmen Roche Herrero; Giuseppe Zampino; Hanan Hamamy; Yusra Zalloum; Per Erik Waaler; Giangiorgio Crisponi; Laura Crisponi; Frank Rutsch
Journal:  Eur J Hum Genet       Date:  2011-02-16       Impact factor: 4.246

4.  Stüve-Wiedemann syndrome with a novel mutation in a Saudi infant.

Authors:  Jubara Alallah; Loujen Omar Alamoudi; Reham Mohmmed Makki; Aiman Shawli; Alaa T AlHarbi
Journal:  Int J Pediatr Adolesc Med       Date:  2021-10-09

5.  Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.

Authors:  Nathalie Dagoneau; Deborah Scheffer; Céline Huber; Lihadh I Al-Gazali; Maja Di Rocco; Anne Godard; Jelena Martinovic; Annick Raas-Rothschild; Sabine Sigaudy; Sheila Unger; Sophie Nicole; Bertrand Fontaine; Jean-Luc Taupin; Jean-François Moreau; Andrea Superti-Furga; Martine Le Merrer; Jacky Bonaventure; Arnold Munnich; Laurence Legeai-Mallet; Valérie Cormier-Daire
Journal:  Am J Hum Genet       Date:  2004-01-21       Impact factor: 11.025

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

Authors:  Ali Al Kaissi; Monika Rumpler; Robert Csepan; Franz Grill; Klaus Klaushofer
Journal:  Cases J       Date:  2008-08-21

Review 7.  Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.

Authors:  Hélène Warnier; Christophe Barrea; Sarah Bethlen; Isabelle Schrouff; Julie Harvengt
Journal:  Orphanet J Rare Dis       Date:  2022-04-23       Impact factor: 4.303
  7 in total

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