MCQs

Clinical Scenario: Floppy | Seizures | dysmorphism | Pigmentary retinopathy A 10-day-old male neonate is admitted with poor feeding, lethargy, […]

Clinical scenario: Regression of milestones | Impaired sense of vibration | Hyperintensities on MRI brain A 5-year-old girl is brought

Clinical scenario: Declining school performance| Frequent falls | Hyperpigmentation An 8-year-old boy is brought with progressive decline in school performance

Clinical scenario: Hyperactivity | Hearing impairment | Coarse facial feature| Pebbly papules A 6-year-old boy is referred because of progressive

Clinical scenario: Breathlessness | Coarse features | Macroglossia | Hepatosplenomegaly A 4-year-old boy is brought with progressive breathlessness on exertion,

Clinical scenario: Seizures | short stature | Hypoglycemia | elevated lactate A 20-month-old boy is brought to the emergency department

Clinical scenario: Abdominal pain | Limb weakness | Reddish brown urine An 8-year-old boy is evaluated for recurrent episodes of

Clinical scenario: hypotonia | failure to thrive | macroglossia | cardiomyopathy A 4-month-old boy is brought with progressive hypotonia, poor

Clinical scenario: Premature ageing | Normal intelligence | Pathogenesis A 2-year-old boy is referred because of progressive growth failure despite

Clinical scenario: Failure to thrive | Stiffness| Aged appearance | Management A 4-year-old boy is brought to the pediatric genetics