Literature DB >> 1261109

Achondroplastic and hypochondroplastic dwarfism.

C I Scott.   

Abstract

To ensure proper management, prognosis and genetic counseling among patients with chondrodystrophy a specific diagnosis is critical. Achondroplasia is the most common intrinsic bone dysplasia which results in short-limbed dwarfism. Because of its frequency, it is the most completely documented and understood of these conditions. Emphasis has been given to the various characteristics which allow an exact diagnosis to be made. Hypochondroplasia can be misdiagnosed unless attention is paid to the many differences which distinguish it as a separated disorder. Some ten other conditions must be considered in the differential diagnosis of these conditions.

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Year:  1976        PMID: 1261109

Source DB:  PubMed          Journal:  Clin Orthop Relat Res        ISSN: 0009-921X            Impact factor:   4.176


  3 in total

1.  Neurological complications and myelographic features of achondroplasia.

Authors:  M Galanski; R Herrmann; U Knoche
Journal:  Neuroradiology       Date:  1978-11-24       Impact factor: 2.804

2.  Multiple exostotic hypochondroplasia: syndrome of combined hypochondroplasia and multiple exostoses.

Authors:  R Dominguez; L W Young; M W Steele; B R Girdany
Journal:  Pediatr Radiol       Date:  1984

Review 3.  Optimal management of complications associated with achondroplasia.

Authors:  Penny J Ireland; Verity Pacey; Andreas Zankl; Priya Edwards; Leanne M Johnston; Ravi Savarirayan
Journal:  Appl Clin Genet       Date:  2014-06-24
  3 in total

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