European Journal of Pediatrics

, Volume 140, Issue 3, pp 278–281 | Cite as

Hypochondrogenesis; an additional case

  • G. Hendrickx
  • F. Hoefsloot
  • P. Kramer
  • U. Van Haelst
Case Report


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.

Key words

Achondrogenesis type II Chondrodysplasia Fibroblasts in vitro Hypochondrogenesis Spondyloepiphyseal dysplasia congenita 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Cremin BJ, Beighton P (1978) Bone dysplasias of infancy. Springer-Verlag, Berlin Heidelberg New YorkGoogle Scholar
  2. 2.
    Hwang WS (1978) Ultrastructure of human foetal and neonatal hyaline cartilage. J Path 126:209–214Google Scholar
  3. 3.
    Le Lous M, Hors-Cayla M-C, Hendrickx G, Maroteaux P (1980) Normal lipid composition of fibroblasts from a case of type II achondrogenesis. Eur J Pediatr 134:159–160Google Scholar
  4. 4.
    Macpherson RI, Wood BP (1980) Spondyloepiphyseal dysplasia congenita. Pediatr Radiol 9:217–224Google Scholar
  5. 5.
    Maroteaux P (1981) Spondylo-epiphyseal dysplasia congenita. Pediatr Radiol 10: 250Google Scholar
  6. 6.
    Naumoff P (1977) Thoracic dysplasia in spondyloepiphyseal dysplasia congenita. Am J Dis Child 131:653–654Google Scholar
  7. 7.
    Nissenbaum M, Chung SMK, Rosenberg HK, Buck BE (1977) Thanatophoric dwarfism. Two case reports and survey of the literature. Clin Pediatr 16:690–697Google Scholar
  8. 8.
    Schulte MJ, Lenz W, Vogel M (1978) Letale Achondrogenesis: eine Übersicht über 56 Fälle. Klin Pädiatr 191:327–340Google Scholar
  9. 9.
    Slomic AM, Dorval J (1977) Formes frustes de l'achondrogénèse. J Can Assoc Radiol 28:33–39Google Scholar
  10. 10.
    Spranger JW, Langer LO Jr, Wiedemann HR (1974) In: Saunders WB (ed) Bone dysplasias: An atlas of constitutional disorders of skeletal development. Philadelphia, 26–27; 95–101Google Scholar
  11. 11.
    Stanescu V, Stanescu R, Maroteaux P (1977) Etude morphologique et biochimique du cartilage de croissance dans les osteochondrodysplasies. Arch Fr Pediatr [Suppl 3] 34:1–80Google Scholar
  12. 12.
    Yang SS, Chen H, Williams P, Cacciarelli A, Misra RP, Bernstein J (1980) Spondyloepiphyseal dysplasia congenita. Arch Pathol Lab Med 104:208–211Google Scholar

Copyright information

© Springer-Verlag 1983

Authors and Affiliations

  • G. Hendrickx
    • 1
  • F. Hoefsloot
    • 2
  • P. Kramer
    • 3
  • U. Van Haelst
    • 4
  1. 1.Department of PaediatricsUniversity Children's Hospital Het Wilhelmina Kinderziekenhuis UtrechtThe Netherlands
  2. 2.Department of Pathology, Diaconessenhuis EindhovenUniversity Children's Hospital, Het Wilhelmina Kinderziekenhuis UtrechtThe Netherlands
  3. 3.Department of RadiologyUniversity Children's Hospital, Het Wilhelmina Kinderziekenhuis UtrechtThe Netherlands
  4. 4.Department of PathologyUniversity of NymegenThe Netherlands

Personalised recommendations