顎顔面における硬組織の成長発育と形成異常のメカニズム

Mechanisms of growth, development and disease of the craniofacial skeleton.

　顎・顔面の骨格は脳を保護するとともに，目・鼻・口といった感覚器を顔面に収め，さらに，消化器と呼吸器の入り口としての役割を果たす。頭蓋・顔面の骨格は，形態と機能のバランスを維持しながら成長発育し，そのメカニズムは非常に複雑である。また，このバランスが崩れることによって，顔面の奇形や変形が生じる。そこで，本総説では，顎顔面の成長発育のメカニズムに焦点を当て，その分子機構やヒトの顎顔面の骨格に影響を及ぼす先天性疾患について概説していきたい。

　Craniofacial skeleton is derived from several pieces of bone, which hold the brain and house the sensory organ of vision, hearing, taste and smell. It also serves as an entrance of the digestive and respiratory tracts. Hence, craniofacial complex develops under sophisticated balance between the shape and the function. Disruption of such balance leads to various types of malformation and/or deformation of the face. This review focuses on the molecular aspects of growth and developments of the craniofacial structures and also on the genetic basis of congenital craniofacial malformations.