The Skeletal System

  • Peter G. J. NikkelsEmail author


Skeletal dysplasias are a group of disorders with a disturbance in development and/or growth of cartilage and/or bone. Epiphysis, metaphysis, and diaphysis of long bones are affected in a generalized manner with or without involvement of membranous bone of the skull. A dysostosis affects one or some skeletal elements, while the other bones remain normal. There are approximately 450 different disorders known with involvement of 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.


Skeletal dysplasias Osteochondrodysplasias Fibroblast growth factor receptor 3 (FGFR3) FGFR3 chondrodysplasia group Thanatophoric dysplasia Cloverleaf skull Osteogenesis imperfecta (OI) Brittle bone disease Type 2 collagen group Sulfation disorders group Sulfate transporter Achondrogenesis Short-rib dysplasias Fractures Osteomyelitis 


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© Springer International Publishing 2015

Authors and Affiliations

  1. 1.Department of PathologyUniversity Hospital UtrechtUtrechtThe Netherlands

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