Literature DB >> 7422392

Osteoglophonic dwarfism.

P Beighton, B J Cremin, K Kozlowski.   

Abstract

A ten year old South African girl of mixed ancestry presented with gross facial abnormalities and dwarfism consequent upon a bizarre skeletal dysplasia. The main radiographic features were craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyl. Intelligence was normal and there were no systemic ramifications. The term "osteoglophonic dwarfism" is a succinct and apt designation for this remarkable disorder.

Entities:  

Mesh:

Year:  1980        PMID: 7422392     DOI: 10.1007/bf01644343

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


  1 in total

1.  Craniofacial dysotosis with fibrous metaphyseal deffects.

Authors:  T E Keats; T H Smith; D E Sweet
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1975-06
  1 in total
  13 in total

Review 1.  FGF23 and Phosphate Wasting Disorders.

Authors:  Xianglan Huang; Yan Jiang; Weibo Xia
Journal:  Bone Res       Date:  2013-06-28       Impact factor: 13.567

Review 2.  Disorders of phosphate homeostasis and tissue mineralisation.

Authors:  Clemens Bergwitz; Harald Jüppner
Journal:  Endocr Dev       Date:  2009-06-03

3.  Osteoglophonic dysplasia.

Authors:  F Greenberg; R A Lewis
Journal:  J Med Genet       Date:  1990-03       Impact factor: 6.318

Review 4.  The PTH-Vitamin D-FGF23 axis.

Authors:  Jenny E Blau; Michael T Collins
Journal:  Rev Endocr Metab Disord       Date:  2015-06       Impact factor: 6.514

5.  Osteoglophonic Dysplasia: Phenotypic and Radiological Clues.

Authors:  Shwetha Kuthiroly; Dhanya Yesodharan; Aneesh Ghosh; Kenneth E White; Sheela Nampoothiri
Journal:  J Pediatr Genet       Date:  2017-05-05

6.  Osteoglophonic dysplasia.

Authors:  P Beighton
Journal:  J Med Genet       Date:  1989-09       Impact factor: 6.318

Review 7.  FGF23 and syndromes of abnormal renal phosphate handling.

Authors:  Clemens Bergwitz; Harald Jüppner
Journal:  Adv Exp Med Biol       Date:  2012       Impact factor: 2.622

8.  Osteoglophonic dwarfism in two generations.

Authors:  R I Kelley; P F Borns; D Nichols; E H Zackai
Journal:  J Med Genet       Date:  1983-12       Impact factor: 6.318

9.  Osteoglophonic dysplasia: A 'common' mutation in a rare disease.

Authors:  A J Sow; R Ramli; Z A Latiff; S Ichikawa; A K Gray; R Nordin; M N Abd Jabar; S H A Primuharsa Putra; C H Siar; M J Econs
Journal:  Clin Genet       Date:  2010-03-05       Impact factor: 4.438

Review 10.  Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation.

Authors:  Murat Bastepe; Harald Jüppner
Journal:  Rev Endocr Metab Disord       Date:  2008-03-26       Impact factor: 6.514

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