Fraser Syndrome: Case Report with Review of Literature

• 作者: Graham Thompson Luna Dhir Sarah Mackenzie Saruban Pasu
• 来源期刊: 眼科学期刊(英文)
• 学科: 医学
• 关键词: Cryptophthalmos FRASER SYNDROME
• 年，卷（期）: 2011,（1）
• 页码范围: 1-3
• 页数: 3页
• 分类号: R73

摘要

Fraser syndrome is a rare autosomal recessive multisystem disorder with a reported incidence of 0.043 per 10,000 live born infants and 1.1 in 10,000 stillbirths[1]. The condition is characterised by cryptophthalmos, cutaneous syndactyly, laryngeal and genitourinary malformations, craniofacial dysmorphism, orofacial clefting, musculoskeletal anomalies and mental retardation. The diagnosis can be made on prenatal scans, post natal clinical examination or on autopsy findings. We present a case of Fraser syndrome and review of the ocular manifestations of this condition.