Complications related to the surgical management of achondroplasia

Michael C. Ain, B. M. Cascio, Romergryko G. Geocadin, Daniele Rigamonti

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Achondroplasia is an autosomal dominant disorder that affects the endochondral growth of bone. It is caused by a point mutation in fibroblast growth factor receptor 3 located on chromosome 4p16.3. Over 80% of the cases result from new mutations in a child born to normal parents. The defective endochondral growth of bone results in rhizomelic dwarfism that has characteristic macrocephaly and hypoplasia of the midface. The disorder is also associated with a delay in achieving milestones such as balanced sitting and walking, which plays a role in the development of the unique achondroplastic spinal deformities.

Original languageEnglish (US)
Title of host publicationComplications of Pediatric and Adult Spinal Surgery
PublisherCRC Press
Pages629-638
Number of pages10
ISBN (Electronic)9780824753092
ISBN (Print)9780824754211
StatePublished - Jan 1 2004

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'Complications related to the surgical management of achondroplasia'. Together they form a unique fingerprint.

  • Cite this

    Ain, M. C., Cascio, B. M., Geocadin, R. G., & Rigamonti, D. (2004). Complications related to the surgical management of achondroplasia. In Complications of Pediatric and Adult Spinal Surgery (pp. 629-638). CRC Press.