FRASER SYNDROME: A CASE REPORT
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Abstract
Fraser syndrome (cryptophthalmos syndrome) is a congenital anomaly in which cryptophthalmos is the main feature. Other malformations can include syndactyly, craniofacial and urogenital anomalies. It is a rare autosomal recessive condition with FRAS1, FREM2 and GRIP1 genes mutation. We report a case of 2 months old male child born to consanguineous parents. He presented with unilateral cryptophthalmos and some features that were compatible with diagnostic criteria of Fraser syndrome such as syndactyly, high arched palate with ankyloglossia, cryptorchidism and hypospadias. It can be diagnosed by antenatal ultrasound and clinical examination. We also present the criteria for diagnosing Fraser syndrome, its prenatal findings and ocular management.
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References
Alsaman, MZB, Agha S, Sallah H, Badawi R, Kitaz MN, Assani A, et al. Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report. BMC Pregnancy Childbirth 2020 Jun 10;20(1):358. DOI: 10.1186/s12884-020-03048-x.
Metanat Z, Tabatabaei SM, Zenker M, Shafeghati Y. Unilateral Kidney Agenesis in a Child with Fraser Syndrome: A Case Report/ Gene Cell Tissue 2017; 4(4);e64990. DOI: 10.5812/gct.64990.
Kanski J, Bowling B. Clinical ophthalmology. 8th ed; 2016. p.60.
Butt JBY, Qureshi TM, Khan MT, Ahmad A. Cryptophthalmos Syndrome: A Case Report. Pak J Ophthalmol 2014;30(3):172-4.
Falls ME, Rabinowitz MP, Carrasco JR, Rabinowitz MR. Endoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review. Allergy Rhinol (Providence) 2018 Oct 22;9:2152656718804905. DOI: 10.1177/2152656718804905.
Firth H, Hurst J. Oxford desk reference. 2nd ed. Oxford: Oxford University Press; 2017.
Dumitru A, Costache M, Lazaroiu AM, Simion G, Secara D, Cirstoiu M, et al. Fraser syndrome - a case report and review of literature. Mædica (Bucur) 2016; 11(1):80–3.
Thomas IT, Frias JL, Felix V, De Leon LS, Hernandez RA, et al. Isolated and syndromic cryptophthalmos. Am J Med Genet 1986 Sep;25(1):85-98. DOI: 10.1002/ajmg.1320250111.
Kalpana Kumari M K, Kamath S, Mysorekar VV, Nandini G. Fraser syndrome. Indian J Pathol Microbiol 2008; 51(2):228-9.
Sultana S, Hussain R, Lateef N, Ali A, Hani L. Fraser syndrome – a dilemma to parents. Pak J Med Dentistry 2017;6(03):42-4.
Saleem AA, Siddiqui SN. Fraser Syndrome. J Coll Physicians Surg Pak 2015 Oct;25 Suppl 2:S124-6. DOI: 10.2015/JCPSP.S124S126.