| Autor: |
van der Hartet, Hans, Brons, Jozien, Dijkstra, Piet, Niermeyer, Martinus, Meijer, Chris, van Giejn, Herman, Arts, Nico F. Th. |
| Zdroj: |
Fetal and Pediatric Pathology; 1988, Vol. 8 Issue: 6 p571-597, 27p |
| Abstrakt: |
In the classification of lethal osteochondrodysplasias, achondrogenesis and hypochondrogenesis have recently received special attention. We describe 23 cases representing the different subtypes. Within the classical type I (Parenti-Fraccaro) two distinct disorders can be recognized: type IA (Houston-Harris) and type IB (Fraccaro). The classical type II (Langer-Saldino) and hypochondrogenesis represent phenotypic variants of one disorder in which type II is the most severe form and hypochondrogenesis the mildest form, while transitional forms exist. It is likely that a basic defect in cellular function of the chondrocyte results in a deficient cartilage matrix and in disorganized enchondral ossification. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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