Literature DB >> 6628450

Hypochondrogenesis; an additional case.

G Hendrickx, F Hoefsloot, P Kramer, U Van Haelst.   

Abstract

In a case of hypochondrogenesis, abnormal fat deposits were found in the chondrocytes, by anatomopathological and by ultrastructural examination. In the cultured fibroblast we were unable to demonstrate abnormal lipid loading. Our case could be isolated from other types of lethal congenital chondrodysplasias--especially the lethal type of spondyloepiphyseal dysplasia congenita--by microscopic and ultrastructural investigations.

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Year:  1983        PMID： 6628450     DOI： 10.1007/bf00443377

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


  10 in total

1.  Thanatophoric dwarfism. Two case reports and survey of the literature.

Authors:  M Nissenbaum; S M Chung; H K Rosenberg; B E Buck
Journal:  Clin Pediatr (Phila)       Date:  1977-08       Impact factor: 1.168

2.  [Lethal achondrogenesis: a review of 56 cases (author's transl)].

Authors:  M J Schulte; W Lenz; M Vogel
Journal:  Klin Padiatr       Date:  1978-07       Impact factor: 1.349

3.  [Atypical achondrogenesis. Review of the literature apropos of 2 cases].

Authors:  A M Slomic; J Dorval
Journal:  J Can Assoc Radiol       Date:  1977-03

4.  Spondylo-epiphyseal dysplasia congenita.

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

5.  [Morphological and biochemical study of growth cartilage in osteochondrodysplasias].

Authors:  V Stanescu; R Stanescu; P Maroteaux
Journal:  Arch Fr Pediatr       Date:  1977-03

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.  Spondyloepiphyseal dysplasia congenita. A comparative study of chondrocytic inclusions.

Authors:  S S Yang; H Chen; P Williams; A Cacciarelli; R P Misra; J Bernstein
Journal:  Arch Pathol Lab Med       Date:  1980-04       Impact factor: 5.534

8.  Ultrastructure of human foetal and neonatal hyaline cartilage.

Authors:  W S Hwang
Journal:  J Pathol       Date:  1978-12       Impact factor: 7.996

9.  Thoracic dysplasia in spondyloepiphyseal dysplasia congenita.

Authors:  P Naumoff
Journal:  Am J Dis Child       Date:  1977-06

10.  Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism.

Authors:  R I Macpherson; B P Wood
Journal:  Pediatr Radiol       Date:  1980-07
  10 in total
  1 in total

1.  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
  1 in total

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