Bowling Ernest L, Burstein Fernando D
Optometry. 2006 May;77(5):217-22. doi: 10.1016/j.optm.2006.03.005.
Crouzon syndrome is a rare genetic disorder characterized by distinctive malformations of the skull and facial region. Premature cranial suture closure is the most common skull abnormality. Optic disc edema and proptosis are among the most common ocular findings.
We present a case of a 5-year-old girl with Crouzon syndrome displaying classic facial abnormalities along with proptosis and papilledema. The child's condition was improved dramatically after a monoblock advancement procedure.
The differential diagnosis of the condition and treatment options are discussed. The referring optometrist can play an integral role in the multidisciplinary care the patients require.
克鲁宗综合征是一种罕见的遗传性疾病，其特征为颅骨和面部区域出现独特的畸形。颅缝过早闭合是最常见的颅骨异常。视盘水肿和眼球突出是最常见的眼部表现。
我们报告一例5岁患有克鲁宗综合征的女孩，其表现出典型的面部异常以及眼球突出和视乳头水肿。在进行整块前移手术之后，患儿的病情显著改善。
讨论了该疾病的鉴别诊断和治疗选择。转诊的验光师在患者所需的多学科护理中可发挥不可或缺的作用。
