HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity.

Abstract
Recently hypochondrogenesis was described as a form of neonatally lethal dwarfism said to resemble spondyloepiphyseal dysplasia congenita radiographically and achondrogenesis II morphologically. Because of the difficulty in distinguishing radiographically between mild achondrogenesis II and severe hypochondrogenesis, we performed a clinical, radiographic, and morphologic study of 24 cases originally classified as either achondrogenesis II or hypochondrogenesis, in an attempt to distinguish between heterogeneity and clinical variability. Review of the radiographic findings in these cases show a fairly continuous spectrum of bony defects, rather than two distinct radiographic syndromes. Chondro-osseous histology and ultrastructure was similar in all cases regardless of severity and was characterized by hypervascularity and hypercellularity of the cartilage with multiple small, round dilated cysternae of rough endoplasmic reticulum. These findings suggest that hypochondrogenesis and achondrogenesis type II represent a spectrum with marked phenotypic variability.
AuthorsZ Borochowitz, A Ornoy, R Lachman, D L Rimoin
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 24 Issue 2 Pg. 273-88 (Jun 1986) ISSN: 0148-7299 [Print] United States
PMID3717210 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)
Topics
  • Bone and Bones (pathology)
  • Cartilage (pathology)
  • Congenital Abnormalities (classification, diagnostic imaging, pathology)
  • Dwarfism (diagnostic imaging, genetics)
  • Female
  • Humans
  • Phenotype
  • Pregnancy
  • Radiography

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: