A novel termination site in a case of Stüve–Wiedemann syndrome: case report and review of literature

Deepali Bhalla, Sunil Sati, Donald Basel, Vijender Karody
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Abstract

Stüve–Wiedemann syndrome (SWS) is a rare autosomal recessive disorder that is characterized by bowing of long bones, dysautonomia, temperature dysregulation, swallowing and feeding difficulties, and frequent respiratory infections. Respiratory distress and hyperthermic events are the leading causes of early neonatal death, and most patients are not expected to survive past infancy. Here, we report on the survival of a 5-year-old male with SWS, discussing his case presentation, providing a brief clinical course, and discussing the outcome. This case adds to the literature surrounding rare instances of childhood survivors of SWS and raises awareness for this syndrome to facilitate an earlier recognition, intervention, and genetic counseling for the families, thereby improving understanding of this disease and the health outcomes for the children affected by this condition.
斯特韦-韦德曼(Stüve-Wiedemann)综合征病例中的新型终止部位:病例报告和文献综述
Stüve-Wiedemann 综合征(SWS)是一种罕见的常染色体隐性遗传疾病,主要表现为长骨弯曲、自主神经功能障碍、体温调节障碍、吞咽和喂养困难以及频繁的呼吸道感染。呼吸窘迫和高热事件是新生儿早期死亡的主要原因,预计大多数患者活不过婴儿期。在此,我们报告了一名 5 岁男性 SWS 患者的存活情况,讨论了他的病例表现,提供了简短的临床病程,并对结果进行了讨论。本病例丰富了有关 SWS 儿童期罕见存活病例的文献,提高了人们对该综合征的认识,有助于更早地识别、干预和为患者家庭提供遗传咨询,从而增进对该疾病的了解,改善患儿的健康状况。
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