These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
Pubmed for Handhelds
PUBMED FOR HANDHELDS
Search MEDLINE/PubMed
Title: The lethal chondrodysplasias. Author: Maroteaux P, Stanescu V, Stanescu R. Journal: Clin Orthop Relat Res; 1976; (114):31-45. PubMed ID: 1261128. 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.[Abstract] [Full Text] [Related] [New Search]