患有已知的Dandy-Walker形和营养不良的婴儿被发现有额外的诊断
Jacob Q Lin1, April Cooke1, Nick Townley1
1Department of Pediatrics, Creighton University, School of Medicine, Omaha, Nebraska.
AJP reports
|April 28, 2025
概括
丹迪-沃克形 (DWM) 很少在努南综合征 (NS) 中出现. 这一案例突显了婴儿患有DWM和NS的PTPN11突变,强调了诊断方面的挑战.
科学领域:
- 儿科神经学 儿科神经学
- 临床遗传学 临床遗传学
背景情况:
- 丹迪-沃克形 (DWM) 是一种先天性脑形.
- 努南综合征 (NS) 是一种遗传性疾病,具有多种临床表现.
- 在医学文献中,DWM和NS的同时发生很少被报道.
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