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

1 Scopus citations


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
Number of pages10
ISBN (Electronic)9780824753092
ISBN (Print)9780824754211
StatePublished - Jan 1 2004

ASJC Scopus subject areas

  • Medicine(all)


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