Literature DB >> 3396596

Recessive lethal chondrodysplasia, "round femoral inferior epiphysis type".

P Maroteaux1, R Stanescu, V Stanescu, J Cousin.   

Abstract

Four cases of a sublethal form of chondrodysplasia are reported. The micromelic dwarfism is severe and on X-ray pictures the most striking feature is the shape of the lower femoral epiphysis, which is relatively well developed and rounded. The mode of inheritance is presumably autosomal recessive.

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Year:  1988        PMID: 3396596     DOI: 10.1007/bf00496421

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  2 in total

1.  The lethal chondrodysplasias.

Authors:  P Maroteaux; V Stanescu; R Stanescu
Journal:  Clin Orthop Relat Res       Date:  1976 Jan-Feb       Impact factor: 4.176

2.  Lethal neonatal chondrodysplasias in the West of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant.

Authors:  J M Connor; R A Connor; E M Sweet; A A Gibson; W J Patrick; M B McNay; D H Redford
Journal:  Am J Med Genet       Date:  1985-10
  2 in total
  1 in total

1.  Cartilage hair hypoplasia in infancy: a misleading chondrodysplasia.

Authors:  M Le Merrer; P Maroteaux
Journal:  Eur J Pediatr       Date:  1991-10       Impact factor: 3.183

  1 in total

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