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The parents of a 5-year-old boy present with concerns about his delayed development - he cannot walk or speak independently, is a slow learner, and cannot feed or toilet himself. On examination, he has several dysmorphic features including a small head, large tongue, depressed nasal bridge, small ears, small hands with clinodactyly, and a single palmar crease. Investigations show seizure activity on EEG, prolonged QRS complex on ECG, and elevated blood sugar.
- Author
- Amber AJ
- Language
- EN