Carroll A L, Sullivan T J
Department of Ophthalmology, Royal Brisbane Hospital, Queensland, Australia.
Clin Exp Ophthalmol. 2001 Feb;29(1):38-40. doi: 10.1046/j.1442-9071.2001.00363.x.
Cherubism is a rare, inherited condition characterized by fibro-osseous lesions of the maxilla and mandible. It has recently been localized to chromosome 4p16.3. The fullness of the lower half of the face and retraction of the lower lids gives the characteristic 'eyes raised to heaven' cherubic appearance. A case report of a 7-year-old girl with extensive orbital involvement of cherubism is presented. The patient underwent multidisciplinary surgery for the bony lesions, which extended from the maxillary antrum into adjacent structures, including extensive extraperiosteal orbital involvement. Cherubism may have orbital manifestations including lower lid retraction, proptosis, diplopia, globe displacement and visual loss due to optic atrophy. Ophthalmologists should be aware of the syndrome, its ophthalmic features and overall management.
颌骨肥大症是一种罕见的遗传性疾病，其特征为上颌骨和下颌骨的纤维骨性病变。最近已将其定位到染色体4p16.3。面部下半部饱满以及下眼睑退缩，呈现出“眼睛向上仰望天堂”的典型天使面容。本文报告了一例7岁女童颌骨肥大症累及眼眶的病例。该患者因骨病变接受了多学科手术，病变从上颌窦延伸至相邻结构，包括广泛的骨膜外眼眶受累。颌骨肥大症可能有眼眶表现，包括下眼睑退缩、眼球突出、复视、眼球移位以及因视神经萎缩导致的视力丧失。眼科医生应了解该综合征、其眼部特征及整体治疗方法。
