Article citationsMore>>

A. M. Slavotinek and C. J. Tifft, “Fraser Syndrome and Cryptophthalmos: A Review of the Diagnostic Criteria and Evidence of Phenotypic Modules,” Journal of Medical Genetics, Vol. 39, 2002, pp. 623-633. doi:10.1136/jmg.39.9.623

has been cited by the following article:

• TITLE: Fraser Syndrome: Case Report with Review of Literature

  AUTHORS: Saruban Pasu, Luna Dhir, Sarah Mackenzie, Graham Thompson

  KEYWORDS: Cryptophthalmos, Fraser Syndrome

  JOURNAL NAME: Open Journal of Ophthalmology, Vol.1 No.1, November 17, 2011

  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.