Fraser Syndrome: Case Report with Review of Literature

Pasu, Saruban and Dhir, Luna and Mackenzie, Sarah and Thompson, Graham (2011) Fraser Syndrome: Case Report with Review of Literature. Open Journal of Ophthalmology, 01 (01). pp. 1-3. ISSN 2165-7408

[thumbnail of OJOph20110100002_55633469.pdf] Text
OJOph20110100002_55633469.pdf - Published Version

Download (102kB)

Abstract

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.

Item Type: Article
Subjects: Research Asian Plos > Medical Science
Depositing User: Unnamed user with email support@research.asianplos.com
Date Deposited: 11 Feb 2023 09:21
Last Modified: 13 Jul 2024 13:24
URI: http://global.archiveopenbook.com/id/eprint/138

Actions (login required)

View Item
View Item