頭頸部領域における遺伝性疾患―遺伝性難聴を伴う疾患を中心に

Hereditary diseases of head and neck：especially diseases with hereditary hearing loss

頭頸部では，Treacher Collins症候群，Noonan症候群，Apert症候群，Crouzon症候群など，特徴的な顔貌の異常を伴う多数の遺伝性疾患が知られている。本稿では，遺伝性難聴を示す疾患を中心に，画像診断が比較的重要と思われる疾患について概説する。

Some hereditary diseases of head and neck in which the imaging can play important roles are discussed. Especially, imaging characteristics of diseases with hereditary hearing loss such as BOR syndrome, CHARGE syndrome, Pendred syndrome, van der Hoeve syndrome, Waardenburg syndrome, X-linked deafness, and 22q11.2 deletion syndrome are presented. Although some imaging findings may suggest a syndromic disease, imaging findings and diseases are not in one-to-one correspondence. In addition, imaging of some neurocutaneous syndromes are presented.