Literature DB >> 1184400

Different types of osteochondrodysplasia in a consecutive series of newborns.

K H Gustavson, H Jorulf.   

Abstract

Among 14816 consecutive live births there were 7 cases of osteochondrodysplasia (incidence 1:2117). In addition there was 1 case of stippled epiphyses, possibly induced by anticonvulsive drugs taken by the mother during the pregnancy, and one case of cerebro-hepato-renal syndrome of Zellweger with roentgenological features similar to those of hypochondrodysplasia. None of 102 stillborns seen at the same time had osteochondrodysplasia. For genetic counselling an exact diagnosis is mandatory, radiological examination of the skeleton is often of decisive importance.

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Mesh:

Year:  1975        PMID: 1184400

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN: 0018-022X


  6 in total

Review 1.  Osteochondral diseases and fibrodysplasia ossificans progressiva.

Authors:  Antonio Morales-Piga; Frederick S Kaplan
Journal:  Adv Exp Med Biol       Date:  2010       Impact factor: 2.622

Review 2.  COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

Authors:  Jason Kennedy; Gail Jackson; Simon Ramsden; Jacky Taylor; William Newman; Michael J Wright; Dian Donnai; Rob Elles; Michael D Briggs
Journal:  Eur J Hum Genet       Date:  2005-05       Impact factor: 4.246

3.  The birth prevalence rates for the skeletal dysplasias.

Authors:  I M Orioli; E E Castilla; J G Barbosa-Neto
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

4.  Spondylometaphyseal dysplasia in two sibs of normal parents.

Authors:  K H Gustavson; G Holmgren; F Probst
Journal:  Pediatr Radiol       Date:  1978-06-19

5.  A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia.

Authors:  Katarzyna A Piróg; Oihane Jaka; Yoshihisa Katakura; Roger S Meadows; Karl E Kadler; Raymond P Boot-Handford; Michael D Briggs
Journal:  Hum Mol Genet       Date:  2010-01-01       Impact factor: 6.150

6.  Birth prevalence of achondroplasia: A systematic literature review and meta-analysis.

Authors:  Pamela K Foreman; Femke van Kessel; Rosa van Hoorn; Judith van den Bosch; Renée Shediac; Sarah Landis
Journal:  Am J Med Genet A       Date:  2020-08-17       Impact factor: 2.802

  6 in total

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