Citation Information :
Andhale A, Devde K, Patil T. Clinical Presentation and Genetic Insights of Mowat–Wilson Syndrome: A Case Series from India. J Acad Pediatr Neurol 2025; 1 (1):11-13.
This case series focuses on two female infants presented with developmental delay associated with multiple congenital anomalies who were eventually found to have Mowat–Wilson syndrome. To begin with, the first case discusses an 8-month infant with notable dysmorphic facial features, congenital heart defect, and developmental milestones delays. Genetic panel tests showed both exome sequencing and a new mutation of the genes including Zinc finger E-box binding homeobox 2 (ZEB2). Another case presented included a 12-month-old who had global developmental delay and hypotonic with an unusual shape craniofacial head. Consistent genetic testing also strong evidence sequenced Mowat–Wilson syndrome with ZEB2 mutation. All of them were evaluated and concluded the diagnosis using comprehensive physical rehabilitation, metabolic nutrition, and even genetic counseling in order to try and fix as much as possible their developmental problems. So, this case series has highlighted various features and the need for syndromology and genetic assessment in congenital disorders with non-specific measures.
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