Achondroplasia: Etiology, clinical presentation, and management

Document Type

Article

Publication Date

1-1-2017

Abstract

By using a literature review, this article examines the implications of achondroplasia. The following areas are discussed: the clinical definition of the disease; the incidence, etiology, and pathogenesis; phenotypical characteristics and natural history of the disease; and management, recurrence risk, and genetic counseling. Lastly, implications for nursing in relation to achondroplasia are discussed.

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