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

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.

Keywords

Dandy–Walker malformation - Noonan syndrome - prenatal diagnosis

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