Work

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

Year: 2025

Type: article

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.

Source: American Journal of Perinatology Reports

DOI: 10.1055/a-2562-1814

Authors: Jacob Q. Lin, April Cooke, Nick Townley

Institution: Creighton University

Language: English

Topic: Fetal and Pediatric Neurological Disorders

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,300