Literature DB >> 9133352

Sponastrime dysplasia: diagnostic criteria based on five new and six previously published cases.

L O Langer1, R K Beals, C I Scott.   

Abstract

Sponastrime dysplasia is a dwarfing autosomal recessive bone dysplasia, the diagnosis of which is based on a combination of clinical and radiological features. The radiological features are more specific than the clinical ones. We have developed diagnostic radiological criteria based on information from our five cases and from six previously published ones.

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Year:  1997        PMID： 9133352     DOI： 10.1007/s002470050157

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


  7 in total

1.  Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Authors:  Lindsay C Burrage; John J Reynolds; Nissan Vida Baratang; Jennifer B Phillips; Jeremy Wegner; Ashley McFarquhar; Martin R Higgs; Audrey E Christiansen; Denise G Lanza; John R Seavitt; Mahim Jain; Xiaohui Li; David A Parry; Vandana Raman; David Chitayat; Ivan K Chinn; Alison A Bertuch; Lefkothea Karaviti; Alan E Schlesinger; Dawn Earl; Michael Bamshad; Ravi Savarirayan; Harsha Doddapaneni; Donna Muzny; Shalini N Jhangiani; Christine M Eng; Richard A Gibbs; Weimin Bi; Lisa Emrick; Jill A Rosenfeld; John Postlethwait; Monte Westerfield; Mary E Dickinson; Arthur L Beaudet; Emmanuelle Ranza; Celine Huber; Valérie Cormier-Daire; Wei Shen; Rong Mao; Jason D Heaney; Jordan S Orange; Débora Bertola; Guilherme L Yamamoto; Wagner A R Baratela; Merlin G Butler; Asim Ali; Mehdi Adeli; Daniel H Cohn; Deborah Krakow; Andrew P Jackson; Melissa Lees; Amaka C Offiah; Colleen M Carlston; John C Carey; Grant S Stewart; Carlos A Bacino; Philippe M Campeau; Brendan Lee
Journal:  Am J Hum Genet       Date:  2019-02-14       Impact factor: 11.025

2.  Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.

Authors:  Hae Ryung Chang; Sung Yoon Cho; Jae Hoon Lee; Eunkyung Lee; Jieun Seo; Hye Ran Lee; Denise P Cavalcanti; Outi Mäkitie; Helena Valta; Katta M Girisha; Chung Lee; Kausthubham Neethukrishna; Gandham S Bhavani; Anju Shukla; Sheela Nampoothiri; Shubha R Phadke; Mi Jung Park; Shiro Ikegawa; Zheng Wang; Martin R Higgs; Grant S Stewart; Eunyoung Jung; Myeong-Sok Lee; Jong Hoon Park; Eun A Lee; Hongtae Kim; Kyungjae Myung; Woosung Jeon; Kyoungyeul Lee; Dongsup Kim; Ok-Hwa Kim; Murim Choi; Han-Woong Lee; Yonghwan Kim; Tae-Joon Cho
Journal:  Am J Hum Genet       Date:  2019-02-14       Impact factor: 11.025

Review 3.  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

4.  A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.

Authors:  Ok-Hwa Kim; Tae-Joon Cho; Hae-Ryong Song; Chin Youb Chung; Shin-Ichiro Miyagawa; Gen Nishimura; Andrea Superti-Furga; Sheila Unger
Journal:  Skeletal Radiol       Date:  2009-03-11       Impact factor: 2.199

5.  Metatropic dysplasia lethal variants.

Authors:  Christine M Hall; Nursel H Elçioglu
Journal:  Pediatr Radiol       Date:  2003-10-18

6.  A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.

Authors:  C M Hall; N H Elçioglu; D G Shaw
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

7.  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
  7 in total

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