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- W4386848075 abstract "Anterior segment dysgenesis is a group of non-acquired ocular anomalies whose cause is multifactorial; many genes are involved. It is characterized by developmental anomalies of the tissues of the anterior segment, of which Peters-Plus syndrome is included. Our aim is to describe the different ophthalmological and systemic aspects of Peters-Plus syndrome in order to improve the quality of diagnosis of this syndrome even in the absence of genetic confirmation, especially in low-income countries or when genetic studies are not available. In this observation, we report the case of a newborn with Peters-Plus syndrome admitted to the neonatology unit. The diagnosis was made on the basis of clinical-radiological criteria, and treatment consisted of caring for the baby and the parents, given the particular psychological context often associated with the birth of a baby with polymalformative syndrome. From this study, Peters-Plus syndrome should be borne in mind in a fetus with typical ocular anomalies, unusual facial appearance and long tubular bone insufficiency, especially in the presence of a positive family history. In such cases, prenatal diagnosis could be an option for the couples. A genetic study should be undertaken to confirm the clinical diagnosis and provide appropriate genetic counseling and prenatal diagnostic options." @default.
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- W4386848075 date "2023-01-01" @default.
- W4386848075 modified "2023-09-30" @default.
- W4386848075 title "Peters-Plus Syndrome: What Outcome in the Absence of Genetic Confirmation? A Case Report" @default.
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- W4386848075 doi "https://doi.org/10.4236/crcm.2023.129049" @default.
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