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Peters-Plus Syndrome: What Outcome in the Absence of Genetic Confirmation? A Case Report

Peters-Plus Syndrome: What Outcome in the Absence of Genetic Confirmation? A Case Report
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摘要 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. 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.
作者 Khadija Mesbah Mouna Zouine Kaoutar Khabach Yousra Elboussaadni Abdellah Oulmaati Jaafar Bendali Chaimae Khodriss Meryem El Bahloul Khadija Mesbah;Mouna Zouine;Kaoutar Khabach;Yousra Elboussaadni;Abdellah Oulmaati;Jaafar Bendali;Chaimae Khodriss;Meryem El Bahloul(Pediatrics Department, CHU Mohammed VI-Tangiers, Tangier, Morocco;Tangier Faculty of Medicine and Pharmacy, Abdelmalek Essaadi University, Tangier, Morocco;Ophthalmology Department, CHU Mohammed VI-Tangiers, Tangier, Morocco)
出处 《Case Reports in Clinical Medicine》 2023年第9期352-356,共5页 临床医学病理报告(英文)
关键词 Peters-Plus Syndrome Genetic Study Prenatal Diagnosis Peters-Plus Syndrome Genetic Study Prenatal Diagnosis
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