Chromosome 3q22.2-q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, Pierre Robin Sequence, and Recurrent Infections [0.03%]
3q22.2-q26.2缺失致Wisconsin综合征、睑裂狭小上睑下垂倒置皮褶症、Dandy-Walker畸形、Pierre-Robin序列征和反复感染综合征一例报告
Pankaj Prasun,Sonja Henry,Vivek Balasubramaniam
Pankaj Prasun
Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for i...
Adult-Onset Syringomyelia in Dandy-Walker Malformation Patients: Clinical Insights and Literature Review [0.03%]
Dandy-Walker畸形患者的成人期 syrinx发生机制及临床特点：病例报告与文献复习
Bojana Zivkovic,Mirko Micovic,Marko Todorovic et al.
Bojana Zivkovic et al.
Introduction: The presence of syringomyelia associated with Dandy-Walker malformation is rarely described in adults. Case report: We report a case of a 28-year-old woman with a history of Dandy-Walker malformation who developed syringomyeli...
Case Reports
Brain sciences. 2025 Apr 26;15(5):456. DOI:10.3390/brainsci15050456 2025
Trigeminal Neuralgia in a 12-Month-Old Boy With Dandy-Walker Malformation and Homozygous Pathogenic TOPORS Variant [0.03%]
患Dandy-Walker畸形并携带TOPORS基因纯合致病突变的12个月男孩面神经痛
K N Lob,W D Brown
K N Lob
A 12-month-old boy with a Dandy-Walker malformation (DWM) presented with a 2-month history of lip chewing and face rubbing such that disfiguring ulcerations were present on his lips and right eye. The persistently frequent but intermittent ...
Infant with Known Dandy-Walker Malformation and Poor Feeding Found to Have Additional Diagnosis [0.03%]
已知迪安迪-沃克畸形且喂养不良的婴儿被发现有其他诊断结果
Jacob Q Lin,April Cooke,Nick Townley
Jacob Q Lin
Background: There are few reported cases of Dandy-Walker Malformation associated with Noonan syndrome (NS). Case presentation: We herei...
Case Reports
AJP reports. 2025 Apr 8;15(2):e43-e46. DOI:10.1055/a-2562-1814 2025
Dandy-Walker malformation associated with hydrocephalus in a 15-month-old child: A case report with literature review [0.03%]
一例15月龄儿童DWML合并脑积水的病例报告及文献复习
Turyalai Hakimi,Hasibullah Baha Nijrabi,Mohammad Yusuf Yadgari et al.
Turyalai Hakimi et al.
Introduction and importance: Dandy-Walker malformation is a posterior cranial fossa anomaly, characterized by the absence or hypoplasia of the vermis and cystic dilatation of the fourth ventricle, resulting in elevation o...
Unraveling Dandy-Walker Malformation: A Comprehensive Literature Review and Case Insight [0.03%]
解开后颅窝畸形之谜：全面文献回顾与病例分析
Mohammad Bdair,Fathi Milhem,Zaid Sawaftah et al.
Mohammad Bdair et al.
Dandy-Walker spectrum disorder (DWSD) is a congenital abnormality of the brain, consisting typically of partial or complete hypoplasia of the cerebellar vermis, cystic dilation of the fourth ventricle, and enlargement of the posterior fossa...
Case report: Dandy-Walker malformation with occipital encephalocele and superadded meningitis [0.03%]
病例报告：Dandy-Walker畸形合并枕部脑膨出和继发性脑膜炎
Saher Bano,Muhammad Aqib Faizan,Tooba Rehman et al.
Saher Bano et al.
Dandy-Walker malformation is a relatively uncommon abnormality known as cerebellar dysgenesis. This condition is characterized by cerebellar vermis hypoplasia, an upwardly rotated and malrotated vermis, an enlarged fourth ventricle, and an ...
Case Reports
Heliyon. 2025 Jan 10;11(2):e41883. DOI:10.1016/j.heliyon.2025.e41883 2025
Smith-Magenis syndrome with Dandy-Walker malformation in a 2-year-old girl: A case report [0.03%]
两岁女童史密斯-马吉尼斯综合征伴丁迪-沃克畸形一例报告
Wen-Tong Zhu,Lu-Xia Jiang,Yu-Mei Ma et al.
Wen-Tong Zhu et al.
Smith-Magenis syndrome (SMS) and Dandy-Walker malformation (DWM) are uncommon genetic conditions with nonspecific clinical features, which makes reaching a definitive diagnosis challenging. We describe here, a 2-year-old girl who was diagno...
Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype [0.03%]
纠正：带有小头畸形和Dandy-Walker畸形谱系的16p11.2缺失综合征：扩展已知的表型
Liena Elbaghir Omer Elsayed,Norah Ayed AlHarbi,Ashwaq Mohammed Alqarni et al.
Liena Elbaghir Omer Elsayed et al.
Published Erratum
Human genomics. 2024 Oct 15;18(1):115. DOI:10.1186/s40246-024-00681-x 2024
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