Literature DB >> 12612812

Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C?

Amaka C Offiah1, Christine M Hall.   

Abstract

Although many constitutional disorders of bone are individually rare, collectively they make up a large group of disorders. They are broadly classified into osteochondrodysplasias and dysostoses. Because of the rarity of some of these conditions, they can be difficult to diagnose. Members of the International Dysplasia Group meet regularly to update and clarify the nomenclature. The last meeting was in Oxford in 2001. This article attempts to highlight the differences between the osteochondrodysplasias and the dysostoses, and provides a systematic approach to their radiological diagnosis.

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Year:  2002        PMID: 12612812     DOI: 10.1007/s00247-002-0855-8

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


  5 in total

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Authors:  Christine M Hall
Journal:  Am J Med Genet       Date:  2002-11-15

2.  A practical radiologic approach to skeletal dysplasias in infancy.

Authors:  R V Dutton
Journal:  Radiol Clin North Am       Date:  1987-11       Impact factor: 2.303

3.  Diagnostic imaging update in skeletal dysplasias.

Authors:  R Dominguez; P Talmachoff
Journal:  Clin Imaging       Date:  1993 Jul-Sep       Impact factor: 1.605

4.  International nomenclature of constitutional diseases of bone. Revision--May, 1977.

Authors: 
Journal:  J Pediatr       Date:  1978-10       Impact factor: 4.406

Review 5.  Malignancy in Maffucci's syndrome.

Authors:  A E Albregts; R P Rapini
Journal:  Dermatol Clin       Date:  1995-01       Impact factor: 3.478

  5 in total
  9 in total

Review 1.  Neonatal skeletal dysplasias.

Authors:  Shawn E Parnell; Grace S Phillips
Journal:  Pediatr Radiol       Date:  2012-03-06

Review 2.  A review of imaging protocols for suspected skeletal dysplasia and a proposal for standardisation.

Authors:  Sarah G Watson; Alistair D Calder; Amaka C Offiah; Samantha Negus
Journal:  Pediatr Radiol       Date:  2015-06-17

Review 3.  Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias.

Authors:  Ananya Panda; Shivanand Gamanagatti; Manisha Jana; Arun Kumar Gupta
Journal:  World J Radiol       Date:  2014-10-28

Review 4.  A framework for the radiologic diagnosis of skeletal dysplasias and syndromes as revealed by molecular genetics.

Authors:  Jerry R Dwek
Journal:  Pediatr Radiol       Date:  2019-11-04

5.  Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood.

Authors:  Hwa Young Kim; Jung Min Ko
Journal:  Ann Pediatr Endocrinol Metab       Date:  2022-06-30

Review 6.  A guide to the recognition of skeletal disorders in the fetus.

Authors:  Rita L Teele
Journal:  Pediatr Radiol       Date:  2006-03-09

Review 7.  Diagnostic use of skeletal survey in suspected skeletal dysplasia.

Authors:  Amith Kumar Iynapillai Veeramani; Paul Higgins; Sandra Butler; Malcolm Donaldson; Elizabeth Dougan; Roderick Duncan; Victoria Murday; Syed Fasial Ahmed
Journal:  J Clin Res Pediatr Endocrinol       Date:  2009-11-04

8.  Frequency of skeletal dysplasia in children with short stature presenting to endocrine clinic: An observational study.

Authors:  Saira Abbas; Muhammad Nadeem Ahsan; Muhammad Sohaib Asghar
Journal:  J Family Med Prim Care       Date:  2022-06-30

Review 9.  Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.

Authors:  Amaka C Offiah; Jerry Vockley; Craig F Munns; Jun Murotsuki
Journal:  Pediatr Radiol       Date:  2018-10-03
  9 in total

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