歌舞伎症候群の典型例

・特徴的な顔貌を有する歌舞伎症候群の典型例を経験した．

・原因としてKMT2D遺伝子が同定された．

・皮膚症状として指尖隆起を認めた．

（「症例のポイント」より）

　

A case of Kabuki syndrome

　

Okuma, Mika1）Sasaki, Keiko1）Toi, Yoichiro1）Kimura, Naritaka2）Nagaoka, Yoshiharu3）Miyake, Noriko4） 1）Department of Dermatology, Hiroshima City Hiroshima Citizens Hospital 2）Department of Plastic Surgery, Hiroshima City Hiroshima Citizens Hospital 3）Department of Pediatrics, Hiroshima City Hiroshima Citizens Hospital 4）Department of Genetics, Yokohama City University of Medicine

　

An 18 months girl presented with cleft lip and cleft palate. Her eyelids were extended and lower eyelids were fluttered. After genetic test KMT2S gene has been detected, we diagnosis her with Kabuki syndrome. Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature. She had also deafness and breast enlargement.