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A Rare Case of Holoprosencephalus with Cyclopia

A Rare Case of Holoprosencephalus with Cyclopia
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摘要 Cyclopia is a rare genetic defect. It is the most severe form of alobar holoprosencephaly, characterized by the fusion of the two orbits and is linked to the lack of development of the frontal bud falling within the framework of ectroprosopia. </span><b><span style="font-family:Verdana;">Case presentation: </span></b><span style="font-family:Verdana;">This is a case report of Gravida 3 Para 3, 32 years old and without a history of abortion, with a history of normal vaginal birth which occurs during labor latency with active movements of the fetus present and cardiac activity on auscultation with pinard stethoscope. The uterine height was 32 cm with well palpated fetal poles. Ultrasound examination confirms the presence of normal cardiac activity with a poorly responsive fetus. After labor management, she gave birth 3 hours after admission to the maternity ward of a living newborn male weighing 2800 g with an Apgar score of 4/10 at the first minute and 2/10 at the fifth minute. He died 10 minutes later at the maternity hospital of the Saint-Louis regional hospital center, in northern Senegal. </span><b><span style="font-family:Verdana;">Conclusion: </span></b><span style="font-family:Verdana;">Holoprosencephaly is certainly rare but remains the most common structural congenital anomaly of the brain with a complex and multifactorial pathogenesis. Early perinatal diagnosis and determination of severity are important to inform parents of the possibilities of a future life. The voluntary termination of pregnancy is an option but remains prohibited in the country to this day for these indications. Cyclopia is a rare genetic defect. It is the most severe form of alobar holoprosencephaly, characterized by the fusion of the two orbits and is linked to the lack of development of the frontal bud falling within the framework of ectroprosopia. </span><b><span style="font-family:Verdana;">Case presentation: </span></b><span style="font-family:Verdana;">This is a case report of Gravida 3 Para 3, 32 years old and without a history of abortion, with a history of normal vaginal birth which occurs during labor latency with active movements of the fetus present and cardiac activity on auscultation with pinard stethoscope. The uterine height was 32 cm with well palpated fetal poles. Ultrasound examination confirms the presence of normal cardiac activity with a poorly responsive fetus. After labor management, she gave birth 3 hours after admission to the maternity ward of a living newborn male weighing 2800 g with an Apgar score of 4/10 at the first minute and 2/10 at the fifth minute. He died 10 minutes later at the maternity hospital of the Saint-Louis regional hospital center, in northern Senegal. </span><b><span style="font-family:Verdana;">Conclusion: </span></b><span style="font-family:Verdana;">Holoprosencephaly is certainly rare but remains the most common structural congenital anomaly of the brain with a complex and multifactorial pathogenesis. Early perinatal diagnosis and determination of severity are important to inform parents of the possibilities of a future life. The voluntary termination of pregnancy is an option but remains prohibited in the country to this day for these indications.
作者 Aliou Diouf Ousmane Thiam Cheikh C. T. Sarr Djibril B. Sow Mamour Gueye Mame D. Ndiaye Magatte Mbaye Aliou Diouf;Ousmane Thiam;Cheikh C. T. Sarr;Djibril B. Sow;Mamour Gueye;Mame D. Ndiaye;Magatte Mbaye(Regional Hospital Center of Saint-Louis, Saint-Louis, Senegal;Gynecological and Obstetric Clinic, EPS Aristide Le Dantec, Dakar, Senegal;Gaston Berger University, Saint-Louis, Senegal)
出处 《Open Journal of Obstetrics and Gynecology》 2020年第8期976-980,共5页 妇产科期刊(英文)
关键词 Holoprosencephalus FETUS CYCLOPIA Saint-Louis Holoprosencephalus Fetus Cyclopia Saint-Louis
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