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
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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 |
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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: | 16 Oct 2024 04:39 |
URI: | http://abstract.stmdigitallibrary.com/id/eprint/138 |