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

Cases Journal

Volumn 1, Issue 1, 2008, Pages

  Al Kaissi, Ali ^a,b   Rumpler, Monika ^a   Csepan, Robert ^b   Grill, Franz ^b   Klaushofer, Klaus ^a  

^a LUDWIG BOLTZMANN INSTITUTE FOR LUNG VASCULAR RESEARCH   (Austria)

^b Orthopaedic Hospital of Speising   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84862268941     PISSN: 17571626     EISSN: 17571626     Source Type: Journal    
DOI: 10.1186/1757-1626-1-121     Document Type: Article

References (14)

1. Stüve A, Wiedemann H-R: Congenital bowing of the long bones in two sisters. (Letter). Lancet 1971, 2:495.
2. Wiedemann H-R, Stuve A: Stuve-Wiedemann syndrome: update and historical footnote. Am J Med Genet 1996, 63:12-16.
3. Al-Gazali LI, Ravenscroft A, Feng A., Shubbar A, Al-Saggaf A, Haas D: Stuve-Wiedemann syndrome in children surviving infancy: clinical and radiological features. Clin Dysmorphol 2003, 12:1-8.
4. Superti-Furga A, Tenconi R, Clementi M., Eich G, Steinmann B, Bolt-shauser E, Giedion A: Schwartz-Jampel syndrome type 2 and Stuve-Wiedemann syndrome: a case for "lumping". Am J Med Genet 1998, 78:150-154.
5. Cormier-Daire V, Superti-Furga A, Munnich A., Lyonnet S, Rustin P, Delezoide A.L., De Lonlay P, Giedion A, Maroteaux P, Le Merrer M: Clinical homogeneity of the Stuve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. Am J Med Genet 1998, 78:146-149.
6. Cormier-Daire V, Genevieve D, Munnich A., Le Merrer M: New insights in congenital bowing of the femora. Clin Genet 2004, 66:169-176.
7. Chen E, Cotter PD, Cohen R, Lachman RS: Characterization of a long-term survivor with Stuve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome. Am J Med Genet 2001, 101:240-245.
8. Chabrol B, Sigaudy S, Paquis V., Montfort M-F, Giudicelli H, Pellissier J-F, Millet V, Mancini J, Philip N: Stuve-Wiedemann syndrome and defects of the mitochondrial respiratory chain. Am J Med Genet 1997, 72:222-226.
9. Raas-Rothschild A, Ergaz Schaltiel Z, Bar Ziv J, Rein AJ: Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome. Am J Med Genet 2003, 121A:156-8.
10. Kozlowski K, Tenconi R: Stuve-Wiedemann dysplasia in a 3-and-a-half-year-old boy. Am J Med Genet 1996, 63:17-19.
11. Le Merrer M, Cormier Daire V, Maroteaux P: Reevaluation of kyphomelic dysplasia. Am J Med Genet 2003, 120A:289-91.
12. Sigaudy S, Moncla A, Fredouille C., Bourliere B, Lambert JC, Philip N: Congenital bowing of the long bones in two fetuses presenting features of Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2. Clin Dysmorphol 1998, 7:257-262.
13. Di Rocco M, Stella G, Bruno C., Doria Lamba L, Bado M, Superti-Furga A: Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysau-tonomia. Am J Med Genet 2003, 118A:362-8.
14. Dagoneau N, Scheffer D, Huber C., Al-Gazali LI, Di Rocco M, Godard A, Martinovic J., Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaven-ture J, Munnich A, Legeai-Mallet L, Cormier-Daire V: Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiede-mann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet 2004, 74:298-305.