无肛症伴肛门狭窄和先天性青紫型心脏病:罕见病例报告

IF 0.2 Q4 PEDIATRICS Journal of Clinical Neonatology Pub Date : 2024-07-01 DOI:10.4103/jcn.jcn_34_24
Sheetal Upreti, Md. Fahim Ahmad, M. Malik, Shivani Dogra
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引用次数: 0

摘要

无肛症是一种极其罕见的泌尿生殖系统畸形,给诊断和治疗带来了复杂的挑战。这种畸形通常伴有其他先天性畸形,需要多学科治疗,并仔细考虑治疗的优先顺序。我们描述了一例被诊断为无肛症、肛门狭窄、双侧输尿管积水和法洛氏四联症的新生儿。尽管制定了及时的干预计划,但新生儿的病情还是迅速恶化,这凸显了处理无肛症相关并发症的紧迫性和复杂性。虽然从胚胎学角度对无肛症的病因有了一定的了解,但无肛症的临床表现突出表明需要立即采取支持性措施,并在性别分配和手术干预方面做出深思熟虑的决策。除了医疗方面的考虑外,最重要的是为做出治疗决定的家庭提供情感和心理支持。
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Aphallia with Anal Stenosis and Congenital Cyanotic Heart Disease: A Rare Case Report
Aphallia, an extremely rare urogenital anomaly, presents complex challenges in diagnosis and management. This anomaly, often accompanied by other congenital malformations, necessitates multidisciplinary care, and careful consideration of treatment priorities. We describe a case of a neonate diagnosed with aphallia along with anal stenosis, bilateral hydroureteronephrosis, and tetralogy of Fallot. Despite prompt intervention plans, the neonate’s condition deteriorated rapidly, highlighting the urgency and complexity of managing aphallia-associated complications. While embryological insights offer some understanding of its etiology, the clinical manifestation of aphallia underscores the need for immediate supportive measures and thoughtful decision-making regarding gender assignment and surgical interventions. Beyond medical considerations, emotional and psychological support for families navigating treatment decisions is paramount.
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期刊介绍: The JCN publishes original articles, clinical reviews and research reports which encompass both basic science and clinical research including randomized trials, observational studies and epidemiology.
期刊最新文献
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