Achondroplasia: Etiology, clinical presentation, and management
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.
Daugherty, Allyson, "Achondroplasia: Etiology, clinical presentation, and management" (2017). Regis University Faculty Publications (comprehensive list). 438.