The Skeletal System

  • Peter G. J. Nikkels

The different phenotypes of disturbances of skeletal development have for centuries fascinated artists as well as medical men, clearly seen in the painting of Don Sebastian de Mora by Velasquez, in the Prado in Madrid.

Skeletal dysplasias are a group of disorders with a disturbance in development or growth of cartilage or bone. Epiphysis, metaphysis, and diaphysis of long bones are affected in a generalized manner with or without involvement of the membranous bone of the skull. A dysostosis affects one or some skeletal elements while the other bones remain normal. There are approximately 200 different disorders known that involve the skeleton. Some 50 dysplasias are lethal. Lethality is usually based on thoracic underdevelopment and lung hypoplasia. The overall frequency among stillbirths and liveborns has been estimated to be 1 per 4000 to 1 per 6000 births and the frequency among perinatal deaths to be 1 per 110 deaths (Camera and Mastroacovo 1982; Orioli et al. 1986; Källén et al. 1993; Rasmussen et al. 1996).


Osteogenesis Imperfecta Skeletal Dysplasia Thanatophoric Dysplasia Campomelic Dysplasia Diastrophic Dysplasia 
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© Springer-Verlag London Limited 2007

Authors and Affiliations

  • Peter G. J. Nikkels
    • 1
  1. 1.Department of PathologyMedical University Centre UtrechtUtrechtThe Netherlands

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