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Achondrogenesis…Hypochondrogenesis: the Spectrum of Chondrogenesis Imperfecta a Radiological, Ultrasonographic, and Histopathologic Study of 23 Cases

1988; Taylor & Francis; Volume: 8; Issue: 6 Linguagem: Inglês

10.3109/15513818809022316

0277-0938

Hans J. van der Hartet, Jozien T. J. Brons, Piet F. Dijkstra, Martinus F. Niermeyer, Chris J.L.M. Meijer, Herman P. van Giejn, N.F.T. Arts,

Bone and Dental Protein Studies

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.