Complications related to the surgical management of achondroplasia

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

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Achondroplasia
Bone Development
Receptor, Fibroblast Growth Factor, Type 3
Megalencephaly
Dwarfism
Point Mutation
Walking
Chromosomes
Parents
Mutation

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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

Complications related to the surgical management of achondroplasia. / Ain, Michael; Cascio, B. M.; Geocadin, Romergryko; Rigamonti, Daniele.

Complications of Pediatric and Adult Spinal Surgery. CRC Press, 2004. p. 629-638.

Research output: Chapter in Book/Report/Conference proceedingChapter

Ain, M, Cascio, BM, Geocadin, R & Rigamonti, D 2004, Complications related to the surgical management of achondroplasia. in Complications of Pediatric and Adult Spinal Surgery. CRC Press, pp. 629-638.
Ain M, Cascio BM, Geocadin R, Rigamonti D. Complications related to the surgical management of achondroplasia. In Complications of Pediatric and Adult Spinal Surgery. CRC Press. 2004. p. 629-638
Ain, Michael ; Cascio, B. M. ; Geocadin, Romergryko ; Rigamonti, Daniele. / Complications related to the surgical management of achondroplasia. Complications of Pediatric and Adult Spinal Surgery. CRC Press, 2004. pp. 629-638
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