Skeletal dysplasias are distinguished by disproportionate short stature and bony anomalies with more than 100 disorders now recognized. (Jones, 1997, pp. 326–98; Gorlin et al., 2001, pp. 178–280). Several of the more common or prototypic skeletal dysplasias are listed in Table 11.1. Pediatricians become involved with skeletal dysplasia in three ways:With perinatal management of dwarfism recognized by prenatal ultrasound studies, with management of neonatal lethal dysplasias where a diagnosis is essential before death occurs, or with long-term preventive management of children and adults with dwarfism. The importance of diagnostic skeletal radiographs for stillborn or neonatal lethal bone dysplasias cannot be overemphasized.

The early diagnosis and preventive management of skeletal dysplasias can vastly improve the length and quality of life for affected children. General preventive management for skeletal dysplasias is first discussed, including a general checklist that can be used for these disorders. Many of the management considerations on the general skeletal dysplasia checklist are similar to those for achondroplasia, but the broader possibilities for complications mandate that physicians add specific concerns to the general checklist. Brief discussion on the more common skeletal dysplasias follows to facilitate addition of their complications to the general checklist. Achondroplasia and osteogenesis imperfecta are then reviewed in detail.

Skeletal dysplasias – general manifestations and preventive management

Terminology

The terms “dysplasia” indicates abnormal growth and indicates that many defects in the skeletal dysplasias are tissue defects rather than true malformations.