A 2-month-old girl with swallowing difficulty initiated at day 1 was evaluated. Birth history was unremarkable. Her suck, Moro, and grasp reflexes were normal; however, she could not swallow. She… Click to show full abstract
A 2-month-old girl with swallowing difficulty initiated at day 1 was evaluated. Birth history was unremarkable. Her suck, Moro, and grasp reflexes were normal; however, she could not swallow. She had soft palate sagging. She had hearing impairment in her right ear. Basic biochemistry, metabolic tests, and karyotype and microarray studies were normal.
               
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