Literature DB >> 1261128

The lethal chondrodysplasias.

P Maroteaux, V Stanescu, R Stanescu.   

Abstract

The lethal chondrodysplasias are a complex group of diseases of which little is known. Three disorders have been well characterized; achondrogenesis, thanatophoric dwarfism, and the lethal chondrodysplasias with polydactyly. Pathological studies of epiphyseal cartilage confirm the separateness of these diseases but further work is necessary to specify the limits of variations. In achondrogenesis, relatively minor forms differ greatly from the usual description. In the chondrodysplasias with polydactyly, skeletal involvement appears to vary from one case to another. Furthermore, we must pursue the genetic studies in thanatophoric dwarfism where the exact mode of inheritance is known.

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Year:  1976        PMID: 1261128

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


  8 in total

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

Authors:  P Maroteaux; R Stanescu; V Stanescu; J Cousin
Journal:  Eur J Pediatr       Date:  1988-05       Impact factor: 3.183

2.  Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.

Authors:  M Godfrey; D W Hollister
Journal:  Am J Hum Genet       Date:  1988-12       Impact factor: 11.025

3.  Hypochondrogenesis.

Authors:  P Maroteaux; V Stanescu; R Stanescu
Journal:  Eur J Pediatr       Date:  1983-10       Impact factor: 3.183

4.  Spondylo-epiphyseal dysplasia congenita.

Authors:  P Maroteaux; V Stanescu; R Stanescu
Journal:  Pediatr Radiol       Date:  1981

5.  Torrance type of lethal neonatal short-limbed platyspondylic dwarfism.

Authors:  N Kaibara; K Yokoyama; H Nakano
Journal:  Skeletal Radiol       Date:  1983       Impact factor: 2.199

6.  Normal lipid composition of fibroblasts from a case of type II achondrogenesis.

Authors:  M Le Lous; M C Hors-Cayla; G F Hendrickx; P Maroteaux
Journal:  Eur J Pediatr       Date:  1980-08       Impact factor: 3.183

7.  Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies.

Authors:  M Godfrey; D R Keene; E Blank; H Hori; L Y Sakai; L A Sherwin; D W Hollister
Journal:  Am J Hum Genet       Date:  1988-12       Impact factor: 11.025

8.  Morphologic studies in the skeletal dysplasias.

Authors:  D O Sillence; W A Horton; D L Rimoin
Journal:  Am J Pathol       Date:  1979-09       Impact factor: 4.307

  8 in total

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