Osseous Abnormalities and CT Findings in Stueve-Wiedemann-Syndrome (SWS);Ossäre Manifestationen und CT-Befunde bei der Seltenen Skelettdysplasie Stueve-Wiedemann (SWS)

RoFo Fortschritte auf dem Gebiet der Rontgenstrahlen und der Bildgebenden Verfahren

Volumn 176, Issue 2, 2004, Pages 215-221

  Langer, Ruth ^a,c   Al Gazali, Ll ^a   Haas, D ^b   Raupp, P ^a   Varady, E ^a  

^a Department of Radiology ^*

^b UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^c UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

Author keywords

Bowing of long bones; Congenital skeletal dysplasia; CT findings in skeletal dysplasia; Respiratory insufficiency IRDS; Stueve Wiedemann Syndrome

Indexed keywords

ARTICLE; BONE DEVELOPMENT; BONE DYSPLASIA; BONE RADIOGRAPHY; CLINICAL ARTICLE; CLINICAL EXAMINATION; COMPUTER ASSISTED TOMOGRAPHY; DIAGNOSTIC IMAGING; FOLLOW UP; HUMAN; NEWBORN; PRIORITY JOURNAL; STUEVE WIEDERMANN SYNDROME; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; AGE FACTORS; BONE AND BONES; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FACIAL ASYMMETRY; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT; INFANT, NEWBORN; MALE; RADIOGRAPHY, THORACIC; RESPIRATORY DISTRESS SYNDROME, NEWBORN; SYNDROME; TIME FACTORS; TOMOGRAPHY, X-RAY COMPUTED;

EID: 1442326035     PISSN: 14389029     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-817629     Document Type: Article

References (14)

1. Stueve A, Wiedemann HR. Congenital bowing of the long bones in two sisters. Lancet 1971; 2: 495
2. Stueve A, Wiedemann HR. Verbiegung langer Röhrenknochen - eine Geschwisterbeobachtung. Z Kinderheilk 1971; 111: 184-192
3. Kozlowski K, Tenconi R. Stueve-Wiedemann dysplasia in a 3 1/2 -year-old boy. Am J Med Genet 1996; 63: 17-19
4. Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshasuer E, Giedion A. Schwartz-Jampel syndrome type 2 and Stueve-Wiedemann syndrome: A case for 'lumping'. Am J Med Genet 1998; 78: 150-154
5. Chen E, Cotter PD, Cohen RA, Lachman RS. Characterization of a long-term survivor with Stueve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome. Am J Med Genet 2001; 101: 240-245
6. di Rocco M, Stella G, Bruno C, Lamba L, Bado M, Superti-Furga A. Long term survival in Stueve-Wiedemann syndrome: a neuro-myo-skeletal disorder with prominent neurovegetative features. Am J Med Genet 2003; 118A: 362-368
7. Al-Gazali LI, Ravenscroft A, Feng A, Shubbar A, Al-Saggaf A, Haas D. Stueve-Wiedemann syndrome in children surviving infancy: clinical and radiological features. Clin Dysmorphol 2003; 12: 1-8
8. Giedion A, Boltshauser E, Briner J, Eich G, Exner G, Fendel H, Kaufmann L, Steinmann B, Spranger J, Superti-Furga A. Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Eur J Pediatr 1997; 156: 214-223
9. Cormier-Daire V, Superti-Furga A, Munnich A, Lyonnet S, Rustin P, Delezoide AL, de Lonlay P, Giedion A, Maroteaux P, Le Merrer M. Clinical homogeneity of the Stueve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. Am J Med Genet 1998; 78: 146-149
10. Al-Gazali LI, Bakir M, Hamid Z, Varady E, Varghes M, Haas D, Bener A, Padmanabhan R, Abdulrazzaq YM, Dawodu A. Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population. Birth Defects Research 2003; 67: 125-132
11. Al-Gazali LI, Bener A, Abdulrazzaq YM, Micallef R, Al-Khayat AI, Gaber T. Consanguineous marriages in the UAE. J Biosocial Sci 1997; 29: 491-497
12. Abdulrazzaq YM, Bener A, Al-Gazali LI, Al-Khayat AI, Micaleff R, Gaber T. A study of possible deleterious effects of consanguinity. Clin Genet 1997; 51: 176-173
13. Maroteaux P. Les Maladies Osseuse de l'Enfant. Ed. Medicine-Sciences, Flammarion, Paris: 1995: 86-87
14. Spranger J, Hall BD, Hane B, Srivastava A, Stevenson RE. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease. Am J Med Genet 2000; 94: 287-295