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Fraser Syndrome - a Case Report and Review of Literature
Adrian Dumitru1, Mariana Costache1, Anca Mihaela Lazaroiu1
1Department of Pathology, Emergency University Hospital, Bucharest, Romania.
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.
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