Fraser Syndrome – a Case Report and Review of Literature

Adrian DUMITRU, Mariana COSTACHE, Anca Mihaela LAZAROIU, George SIMION, Diana SECARA, Monica CIRSTOIU, Alina EMANOIL, Tiberiu Augustin GEORGESCU and Maria SAJIN

ABSTRACT

Fraser syndrome is a rare autosomal recessive genetic disorder characterized by major features such as cryptophthalmos, syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies. In total, about 150 affected patients have been described in the literature. The diagnosis of this syndrome can be established after clinical examination. We present the clinical findings of a rare case of Fraser syndrome with lethal phenotype due to bilateral renal agenesis in a female stillborn.

Keywords: Fraser syndrome, cryptophthalmos, syndactyly, urogenital malformation

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