Literature DB >> 8152878

Sponastrime dysplasia: report on two siblings with metal retardation.

G Camera1, A Camera, M Di Rocco, R Gatti.   

Abstract

We report on two sisters in the third family affected with Sponastrime dysplasia. The clinical and radiological features are presented. The two patients showed severe mental retardation. The pattern of inheritance of this rare dysplasia is discussed.

Entities:  

Mesh：

Year:  1993        PMID： 8152878     DOI： 10.1007/bf02014981

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


  2 in total

1.  The SPONASTRIME dysplasia: familial short-limb dwarfism with saddle nose, spinal alterations and metaphyseal striation. Report of 4 siblings.

Authors:  S Fanconi; C Issler; A Giedion; A Prader
Journal:  Helv Paediatr Acta       Date:  1983-08

2.  Sponastrime dysplasia. A radiologic-pathologic correlation.

Authors:  R S Lachman; H Stoss; J Spranger
Journal:  Pediatr Radiol       Date:  1989
  2 in total
  4 in total

Review 1.  SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature.

Authors:  H A Cooper; J Crowe; M G Butler
Journal:  Am J Med Genet       Date:  2000-05-01

2.  Sponastrime dysplasia: report on a male patient.

Authors:  G Camera; A Camera; S Pozzolo; P Costa
Journal:  Pediatr Radiol       Date:  1994

3.  NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

Authors:  Clara D M van Karnebeek; Luisa Bonafé; Xiao-Yan Wen; Maja Tarailo-Graovac; Sara Balzano; Beryl Royer-Bertrand; Angel Ashikov; Livia Garavelli; Isabella Mammi; Licia Turolla; Catherine Breen; Dian Donnai; Valérie Cormier-Daire; Delphine Heron; Gen Nishimura; Shinichi Uchikawa; Belinda Campos-Xavier; Antonio Rossi; Thierry Hennet; Koroboshka Brand-Arzamendi; Jacob Rozmus; Keith Harshman; Brian J Stevenson; Enrico Girardi; Giulio Superti-Furga; Tammie Dewan; Alissa Collingridge; Jessie Halparin; Colin J Ross; Margot I Van Allen; Andrea Rossi; Udo F Engelke; Leo A J Kluijtmans; Ed van der Heeft; Herma Renkema; Arjan de Brouwer; Karin Huijben; Fokje Zijlstra; Torben Heise; Thomas Boltje; Wyeth W Wasserman; Carlo Rivolta; Sheila Unger; Dirk J Lefeber; Ron A Wevers; Andrea Superti-Furga
Journal:  Nat Genet       Date:  2016-05-23       Impact factor: 38.330

4.  Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case Report.

Authors:  Je Hoon Jeong; A Leum Lee; Sung Yoon Cho; Dong Kyu Jin; Soo-Bin Im
Journal:  Medicine (Baltimore)       Date:  2016-05       Impact factor: 1.889
  4 in total

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