Literature DB >> 18203204

Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.

Karen W Gripp1, Caitlyn Johnson, Charles I Scott, Linda Nicholson, Michael Bober, Merlin G Butler, Linda Shaw, Robert J Gorlin.   

Abstract

SPONASTRIME dysplasia (SD) is an autosomal recessive skeletal dysplasia of the spondyloepimetaphyseal dysplasia (SEMD) type. The name was derived from "spondylar and nasal alterations with striated metaphyses" [Fanconi et al. 1983; Helv Paediat Acta 38: 267-280]. We follow two previously reported patients with SD [Patients 3, 4 in Langer et al. 1996; Am J Med Genet 63: 20-27]. Since the original publication, additional findings were identified in these patients.

Entities:  

Mesh：

Year:  2008        PMID： 18203204      PMCID： PMC6814188          DOI： 10.1002/ajmg.a.32155

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  9 in total

1.  Sponastrime dysplasia: presentation in infancy.

Authors:  A C Offiah; M Lees; R M Winter; C M Hall
Journal:  J Med Genet       Date:  2001-12       Impact factor: 6.318

2.  Severe dwarfism with cataracts. A new osteo-chondrodysplasia.

Authors:  S Chapman; S Bundey; R F Fletcher
Journal:  Br J Radiol       Date:  1990-12       Impact factor: 3.039

3.  A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia.

Authors:  S F Slaney; C M Hall; D J Atherton; R M Winter
Journal:  Clin Dysmorphol       Date:  1999-04       Impact factor: 0.816

4.  Osteopathia striata, short stature, cataracts, and microdontia: a new syndrome? A case report.

Authors:  T D Daley; G P Wysocki; R N Bohay
Journal:  Oral Surg Oral Med Oral Pathol Oral Radiol Endod       Date:  1996-03

5.  Short root anomaly.

Authors:  D M Edwards; G J Roberts
Journal:  Br Dent J       Date:  1990-11-10       Impact factor: 1.626

Review 6.  Sponastrime dysplasia: five new cases and review of nine previously published cases.

Authors:  L O Langer; R K Beals; S LaFranchi; C I Scott; J J Sockalosky
Journal:  Am J Med Genet       Date:  1996-05-03

7.  Short root anomaly in a patient with severe short-limbed dwarfism.

Authors:  L Shaw
Journal:  Int J Paediatr Dent       Date:  1995-12       Impact factor: 3.455

8.  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

Review 9.  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
  9 in total
  2 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.  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
  2 in total

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