亞伯特氏(Apert)症候群臨床上表現為頭顱畸型,手腳併指(趾)畸型,眼部表徵包括眼距過遠,眼裂反蒙古種型(antimogoloid)之傾斜,斜視,以及壓迫性視神經病變等,這些都導因於顱裂不規則的提早關閉。 本文共收集四例亞伯特氏(Apert)症侯群,強調其眼部表現,並討論其臨床上治療的難題。
Apert syndrome is manifested clinically by a misshapen skull and syndactyly of the hands and feet. Ocular manifestations include: hypertelorism, antimogoloid obliquity of the palpebral fissure, strabismus and compressive optic neuropathy, which are caused by irregular premature closure of the cranial sutures. Four cases of Apert syndrome are presented here, with emphasis on ocular findings, and treatments are discussed.