| Literature DB >> 28465758 |
Adrian Dumitru1, Mariana Costache1, Anca Mihaela Lazaroiu1, George Simion1, Diana Secara2, Monica Cirstoiu3, Alina Emanoil2, Tiberiu Augustin Georgescu1, Maria Sajin1.
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.Entities:
Year: 2016 PMID: 28465758 PMCID: PMC5394498
Source DB: PubMed Journal: Maedica (Bucur) ISSN: 1841-9038