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

已知患有丹迪-沃克畸形且喂养困难的婴儿,被发现还有其他诊断

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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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