Sphenoid bone hypoplasia is a skeletal phenotype of cleidocranial dysplasia in a mouse model and patients

Cleidocranial dysplasia (CCD) is an autosomal dominant disorder caused by heterozygous mutations in RUNX2. Affected individuals exhibit delayed maturation or hypoplasia in various bones, mainly including those formed by intramembranous ossification. Although several reports described deformation of the sphenoid bone in CCD patients, details of the associated changes have not been well documented. Most parts of the sphenoid bone are formed by endochondral ossification; however, the medial pterygoid process is formed by intramembranous ossification associated with secondary cartilage.

Source: Bone - November 1, 2018 Category: Orthopaedics Authors: Keisuke Mitomo, Satoru Matsunaga, Kei Kitamura, Takashi Nakamura, Akiko Saito, Toshihisa Komori, Takashi Muramatsu, Akira Yamaguchi Tags: Full Length Article Source Type: research