MCQ: Macrocephaly | Café-au-lait macules
Clinical Scenario: A 5-year-old boy with developmental and social communication difficulties is noted to have macrocephaly and multiple café-au-lait macules. […]
MCQs
MCQ: Phenylketonuria
Clinical Scenario: A 3-year-old boy with classic phenylketonuria (PKU), diagnosed by newborn screening, has remained on a phenylalanine-restricted diet since
MCQ: Short stature | Growth failure
Clinical Scenario: A 7-year-old girl is evaluated for progressive growth failure. Her height has fallen from the 25th percentile to
MCQ: Developmental regression | Cherry red spots
Clinical Scenario: A 2-year-old boy is brought with progressive developmental regression that began at 15 months of age. He initially
MCQ: Mother with Phenyl ketonuria
Clinical Scenario: A woman with phenylketonuria becomes pregnant but does not adhere to her phenylalanine-restricted diet. Her plasma phenylalanine remains
MCQ: Language Delay
Clinical Scenario: A 3-year-old boy is referred for delayed speech and social communication. He uses only a few single words
MCQ: Syndrome with Cleft lip | Chromosomal Mechanism
Clinical Scenario: A newborn has severe congenital anomalies including cleft lip and palate, postaxial polydactyly, microphthalmia, and a ventricular septal
MCQ: Syndrome Anticipation & Inheritance
Clinical Scenario: A 3-year-old boy is evaluated for developmental delay. He has a long face, large ears, joint hypermobility, and
MCQ: Syndrome with hypotonia | Genetic Mechanism
Clinical Scenario: A boy is noted at birth to have marked hypotonia, poor feeding, and bilateral cryptorchidism. During infancy, feeding
MCQ: Developmental Regression
Clinical Scenario: An 18-month-old girl who had previously acquired age-appropriate developmental milestones is brought because of progressive loss of speech
