Literature DB >> 15197587

Wrist anomalies in Turner syndrome compared with Leri-Weill dyschondrosteosis: a new feature in Turner syndrome.

Maithé Tauber1, Nadia Lounis, Julien Coulet, Christiane Baunin, Jean-Philippe Cahuzac, Pierre Rochiccioli.   

Abstract

UNLABELLED: We analysed bone age radiographs in 102 girls with Turner syndrome and compared the findings with 93 control girls and nine girls with Leri-Weill syndrome. Various signs were analysed: radial bowing or Madelung deformity, maximal/minimal height of the radial epiphysis, brachymetacarpia of the 4th digit, carpal and epiphyseal angle, as well as a new sign the distal radio-ulnar physeal disparity. Two values differed significantly between the Turner group and the control group, the first being the epiphyseal angle which has already been reported to be greater in Turner syndrome, and the second being the new sign we have been able to describe. Turner patients had an increased distance between the ulnar and radial metaphysis, or "distal radio-ulnar physeal disparity", the ulnar being shorter. Furthermore, in 27% of cases the medial extremity of the ulnar epiphysis was flattened and passed below the distal extremity of the radius, whose medial part projected over the distal extremity of the ulna, thus reproducing in reverse the characteristic feature of Leri-Weill syndrome. In the growth hormone-treated Turner patients, we found a significant correlation between distal radio-ulnar physeal disparity and growth velocity expressed in cm/year (r = 0.28; P < 0.002) or in SDS/bone age (r = 0.21; P < 0.03) during the first year of treatment.
CONCLUSION: the value of this new sign requires further investigation. Copyright 2004 Springer-Verlag

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Year:  2004        PMID: 15197587     DOI: 10.1007/s00431-004-1471-4

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  10 in total

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3.  Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome.

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Journal:  Am J Phys Anthropol       Date:  1977-05       Impact factor: 2.868

5.  Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.

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Journal:  Nat Genet       Date:  1998-05       Impact factor: 38.330

6.  Phenotypes Associated with SHOX Deficiency.

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Journal:  J Clin Endocrinol Metab       Date:  2001-12       Impact factor: 5.958

7.  Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome.

Authors:  S Schiller; S Spranger; B Schechinger; M Fukami; S Merker; S L Drop; J Tröger; H Knoblauch; J Kunze; J Seidel; G A Rappold
Journal:  Eur J Hum Genet       Date:  2000-01       Impact factor: 4.246

8.  Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome.

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Journal:  Horm Res       Date:  2001

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Authors:  B Lippe
Journal:  Endocrinol Metab Clin North Am       Date:  1991-03       Impact factor: 4.741

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Authors:  S Necić; D B Grant
Journal:  Acta Paediatr Scand       Date:  1978-05
  10 in total
  2 in total

1.  [100 years after Kienböck's description: review of the etiology of Kienböck's disease from a historical perspective].

Authors:  S Stahl; O Lotter; A Santos Stahl; C Meisner; O Luz; M Pfau; H-E Schaller
Journal:  Orthopade       Date:  2012-01       Impact factor: 1.087

Review 2.  A Track Record on SHOX: From Basic Research to Complex Models and Therapy.

Authors:  Antonio Marchini; Tsutomu Ogata; Gudrun A Rappold
Journal:  Endocr Rev       Date:  2016-06-29       Impact factor: 19.871

  2 in total

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