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IHH, Acrocapitofemoral Dysplasia, and Brachydactyly A1 

IHH, Acrocapitofemoral Dysplasia, and Brachydactyly A1
Chapter:
IHH, Acrocapitofemoral Dysplasia, and Brachydactyly A1
Author(s):

Jan Hellemans

and Geert R. Mortier

DOI:
10.1093/med/9780199934522.003.0030
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date: 08 March 2021

It has been clearly demonstrated that indian hedgehog (IHH) plays a key role during endochondral ossification in the growth plate. It stimulates chondrocyte proliferation and inhibits, through the action of PTHLH, the rate of chondrocyte differentiation. Mutations in IHH can result in a growth plate disorders with shortening of the affected bones including acrocapitofemoral dysplasia (ACFD) and brachydactyly A1 (BDA1). The cone-shaped epiphyses observed in ACFD patients may represent the radiographic sign of a disturbed balance between chondrocyte proliferation and differentiation in the growth plate owing to abnormal, probably reduced, IHH signaling.

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