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Biology of RUNX2 and Cleidocranial Dysplasia

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JOURNAL OF CRANIOFACIAL SURGERY
卷 24, 期 1, 页码 130-133

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LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/SCS.0b013e3182636b7e

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Intramembranous ossification; endochondral ossification; FGF; FGFR; TGF beta; BMP; OSTERIX; TWIST1; Runt domain; haploinsufficiency

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Three features of cleidocranial dysplasia that are not always appreciated are hypoplastic iliac wings, short stature, and brachydactyly. Because of the pelvic abnormality, pregnant women may require a cesarean delivery. Short stature and brachydactyly indicate more generalized skeletal abnormalities. These are derived from endochondral and intramembranous ossification, but the distinction between these 2 processes is oversimplified because both processes are involved in long bone and clavicular development. Two sections follow: the biology of RUNX2 and the nature of haploinsufficiency in RUNX2 mutations for cleidocranial dysplasia.

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