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Thanatophoric Dysplasia Type INew Radiologic, Morphologic, and Histologic Aspects Toward the Exact Definition of the Disorder

 

作者: Michael Weber,   Reiner Johannissón,   Marc Thomsen,   Helga Rehder,   Fritz Niethard,  

 

期刊: Journal of Pediatric Orthopaedics  (OVID Available online 1998)
卷期: Volume 7, issue 1  

页码: 1-9

 

ISSN:0271-6798

 

年代: 1998

 

出版商: OVID

 

关键词: Thanatophoric dwarfism;Lethal skeletal dysplasias;Fetal pathology.

 

数据来源: OVID

 

摘要:

A comprehensive seven-step study on THANATOPHORIC DYSPLASIA without cloverleaf skull (TD Type I) was carried out postmortem on three aborted fetuses of 19, 26–27, and 34 weeks and one preterm neonate of 35 weeks gestation, respectively. The characteristic x-ray configuration of the spine in TD Type I presenting with H-, U- or reversed U-shape vertebrae were shown to correlate with the inclination or reclination of the vertebral bodies within a kyphotic or lordotic segment. The bowing of the tubular bones in TD Type I is explained by a diminished mechanical stability that is causally related to a specific cartilage structure. The perichondral spurs are defined by their morphologic structure, and their origin is attributed to a normal perichondral ossification in the presence of an impaired enchondral ossification. Impairment of enchondral ossification was more evident in the periphery than in the center of the metaphyses leading to a tongue-shaped osseous cone directed toward the epiphysis. The perichondral spurs and the linguiform enchondral growth plate resulted in a three-phase maple leaf-like contour of the metaphyses of tubular bones and acetabular roof. The nature of the perichondral fibrous bands, the fibrovascular bundles, and the fibrovascular bands of the growth plate and their significance in atypical ossification processes are discussed in detail. It is suggested that the diminished longitudinal growth of the skeleton is caused by a reduced mitotic activity of cartilage cells in the proliferative zone leading to a reduction of cell numbers in the columnar zone of the growth plates, and furthermore, by the formation of transversely oriented spongiosa bars resulting from desmal ossification of the metaphyseal fibrovascular structures.

 

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