Delineation of CLINICAL PHENOTYPE with Interstitial Deletion on Chromosome 2 Including ZEB2 Gene

Objective: Mowat-Wilson syndrome (MWS) is a rare congenital disorder with specific facial features and multiple congenital anomalies including Hirschsprung disease (HD). In absence of Hirschsprung disease affected individuals may not be recognized until childhood or adulthood. Case Report: A six-year-old girl presented with multiple congenital anomalies, developmental delay and epilepsy. On examination, she had microcephaly and specific dysmorphic features: telecanthus, deeply set eyes, wide nasal bridge with prominent and rounded nasal tip and thick lower lip. Neuroimaging detected micro bleeds in cerebrum. She had been operated for atrial septal defect. Chromosomal microarray (CMA) detected 6.9 Mb interstitial deletion on chromosome 2 (2q22.12q22.3) encompassing ZEB2. Conclusion: A systematic evaluation is warranted in cases of multiple congenital anomalies with neonatal encephalopathy. The availability of current advanced molecular diagnostic modalities have been extremely fruitful in reaching a definitive diagnosis thereby helping the family understand the prognosis, management and recurrent risk for subsequent pregnancies.

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