Literature DB >> 530947

[A dominant form of pseudoachondroplastic dysplasia. A familial case (author's transl)].

G Fontaine, A Gourguechon, M Smith.   

Abstract

The authors report a family of 5 subjects suffering from pseudoachondroplastic dysplasia in an autosomal dominant form. The interest of this report lies in the radiological documents obtained in the subjects at different ages (3, 18 and 63 years) and the extreme rarity of autosomal dominant forms since only six familial cases of this type have been described up to the present time.

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Mesh:

Year:  1979        PMID: 530947

Source DB:  PubMed          Journal:  Presse Med        ISSN: 0032-7867            Impact factor:   1.228


  2 in total

Review 1.  Development of pseudo-achondroplasia over a 30-year period in an adult patient.

Authors:  J M Nores; P Maroteaux; J M Remy
Journal:  Clin Rheumatol       Date:  1989-06       Impact factor: 2.980

2.  Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. A review of 32 patients (26 kindreds).

Authors:  R Wynne-Davies; C M Hall; I D Young
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

  2 in total

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