OJOph  Vol.1 No.1 , November 2011
Fraser Syndrome: Case Report with Review of Literature
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.

Cite this paper
nullS. Pasu, L. Dhir, S. Mackenzie and G. Thompson, "Fraser Syndrome: Case Report with Review of Literature," Open Journal of Ophthalmology, Vol. 1 No. 1, 2011, pp. 1-3. doi: 10.4236/ojoph.2011.11001.
[1]   M. Narang, M. Kumar and D. Shah, “Fraser-Crypto- phthalmos Syndrome with Colonic Atresia,” Indian Journal of Pediatrics, Vol. 75, No. 2, 2008, pp. 89-91. doi:10.1007/s12098-008-0030-9

[2]   W. Zehender, “Eine Missgeburt Mit Hautueberwachsenen Augen Oder Kryptophthalmus,” Klin Monatsbl Augen-heilkd, Vol. 10, 1872, pp. 225-234. doi:10.1007/s12098-008-0030-9

[3]   G. R. Fraser, “Our Genetical ‘Load’: A Review of Some Aspects of Genetic Variation,” Annals of Human Genetics, Vol. 25, 1962, pp. 387-415.

[4]   I. Smyth and P. Scambler, “The Genetics of Fraser Syn-drome and the Blebs Mouse Mutants,” Human Molecular Genetics, Vol. 14, No. 2, 2005, pp. R269-274. doi:10.1093/hmg/ddi262

[5]   I. T. Thomas, J. L. Frias, V. Felix, L. Sanchex de Leon, R. A. Hernandex and M. C. Jones, “Isolated and Syndromic Cryptophthalmos,” American Journal of Medical Genetics, Vol. 25, 1986, pp. 85-98. doi:10.1002/ajmg.1320250111

[6]   E. Feldman, E. Shalev, E. Weiner, H. Cohen and H. Zuckerman, “Microphthalmia B Prenatal Ultrasonic Di-agnosis: A Case Report,” Prenatal Diagnosis, Vol. 5, 1985, pp. 205-207. doi:10.1002/pd.1970050307

[7]   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

[8]   J. Gattuso, M. A. Patton and M. Baraitser, “The Clinical Spectrum of Fraser Syndrome: Report of Three New Cases and Review,” Journal of Medical Genetics, Vol. 24, 1987, pp. 549-555. doi:10.1136/jmg.24.9.549

[9]   J. Francois, “Syndrome Malformatif Avec Cryptophthal-mie,” Annals Genertics Medical Gemellol, Vol. 18, 1969, pp. 18-50.

[10]   D. J. Brazier, S. J. Hardman-Lea and J. R. O. Collin, “Cryptophthalmos: Surgical Treatment of the Congenital Symblepharon Variant,” British Journal of Ophthalmology, Vol. 70, 1986, pp. 391-395. doi:10.1136/bjo.70.5.391