Infant with Known Dandy-Walker Malformation and Poor Feeding Found to Have Additional Diagnosis.

IF 0.8 Q4 PEDIATRICS

AJP Reports Pub Date : 2025-04-08 eCollection Date: 2025-04-01 DOI:10.1055/a-2562-1814

Jacob Q Lin, April Cooke, Nick Townley

引用次数: 0

Abstract

Background: There are few reported cases of Dandy-Walker Malformation associated with Noonan syndrome (NS).

Case presentation: We herein present a case of a late preterm infant with Dandy-Walker malformation (DWM) that underwent a workup for feeding difficulty and was found to have NS. This is one of the few reported cases of DWM with NS having a PTPN11 gene mutation.

Conclusion: Overlapping clinical features may disguise diagnosis in infants with multiple pathologies.

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婴儿有已知的丹迪步行者畸形和喂养不良被发现有额外的诊断。

背景：很少有与努南综合征（NS）相关的Dandy-Walker畸形的报道。病例介绍：我们在此提出一个患有Dandy-Walker畸形（DWM）的晚期早产儿的病例，该婴儿接受了喂养困难的检查，并被发现患有NS。这是少数报道的DWM合并NS具有PTPN11基因突变的病例之一。结论：重叠的临床特征可能会掩盖婴儿多重病理的诊断。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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