Literature DB >> 12612825

Schimke immuno-osseous dysplasia: two cases.

Anna Tylki-Szymańska1, Antoni Pyrkosz, Małgorzata Krajewska-Walasek, Jacek Michałkiewicz, Aleksandra Kowalska, Dariusz Rokicki.   

Abstract

We report two patients with Schimke immuno-osseous dysplasia (SIOD). SIOD is characterised by growth retardation, renal failure, spondylo-epiphyseal dysplasia, specific phenotype and defective cellular immunity. These two children demonstrated a bone dysplasia with characteristic radiographic appearances. We postulate that SIOD should be considered in all cases of growth failure with an unclassifiable bone dysplasia. Repeated urine tests for proteinuria could be helpful in reaching the correct diagnosis.

Entities:  

Mesh：

Year:  2002        PMID： 12612825     DOI： 10.1007/s00247-002-0852-y

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  4 in total

1.  Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.

Authors:  C F Boerkoel; S O'Neill; J L André; P J Benke; R Bogdanovíć; M Bulla; A Burguet; S Cockfield; I Cordeiro; J H Ehrich; S Fründ; D F Geary; A Ieshima; F Illies; M W Joseph; I Kaitila; G Lama; B Leheup; M D Ludman; D R McLeod; A Medeira; D V Milford; T Ormälä; Z Rener-Primec; A Santava; H G Santos; B Schmidt; G C Smith; J Spranger; N Zupancic; R Weksberg
Journal:  Eur J Pediatr       Date:  2000 Jan-Feb       Impact factor: 3.183

2.  Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.

Authors:  J Spranger; G K Hinkel; H Stöss; W Thoenes; D Wargowski; F Zepp
Journal:  J Pediatr       Date:  1991-07       Impact factor: 4.406

3.  Schimke immuno-osseous dysplasia: a case report.

Authors:  M Bayer; A Baxova; T Olejar; K Kozlowski
Journal:  Radiol Med       Date:  1998-04       Impact factor: 3.469

4.  Renal lesion in Jeune's syndrome.

Authors:  K J Shah
Journal:  Br J Radiol       Date:  1980-05       Impact factor: 3.039
  4 in total
  1 in total

1.  SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

Authors:  Alireza Baradaran-Heravi; Anja Raams; Joanna Lubieniecka; Kyoung Sang Cho; Kristi A DeHaai; Mitra Basiratnia; Pierre-Olivier Mari; Yutong Xue; Michael Rauth; Ann Haskins Olney; Mary Shago; Kunho Choi; Rosanna A Weksberg; Malgorzata J M Nowaczyk; Weidong Wang; Nicolaas G J Jaspers; Cornelius F Boerkoel
Journal:  Am J Med Genet A       Date:  2012-08-07       Impact factor: 2.802
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.