Complications related to the surgical management of achondroplasia

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

Complications related to the surgical management of achondroplasia

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

School of Medicine

Research output: Chapter in Book/Report/Conference proceeding › Chapter

1 Scopus citations

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 language	English (US)
Title of host publication	Complications of Pediatric and Adult Spinal Surgery
Publisher	CRC Press
Pages	629-638
Number of pages	10
ISBN (Electronic)	9780824753092
ISBN (Print)	9780824754211
State	Published - Jan 1 2004

ASJC Scopus subject areas

General Medicine

Cite this

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title = "Complications related to the surgical management of achondroplasia",

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.",

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AU - Cascio, B. M.

AU - Geocadin, Romergryko G.

AU - Rigamonti, Daniele

PY - 2004/1/1

Y1 - 2004/1/1

N2 - 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.

AB - 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.

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M3 - Chapter

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BT - Complications of Pediatric and Adult Spinal Surgery

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ER -

Complications related to the surgical management of achondroplasia

Abstract

ASJC Scopus subject areas

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