Approach to delay or regression in developmental milestones Quiz: Ace Your Exams

A 24-month-old boy is brought to the clinic for a well child visit. The parents report he is unsteady while walking and trips frequently. He is unable to run and prefers to crawl up and down stairs. He knows about 20 individual words that he uses singly without stringing words together; he can only occasionally point in books at words that are said by his parents; and he can stack three blocks together. He does not help with dressing himself. Birth and past medical histories are unremarkable. Family history is pertinent for an uncle who had delayed development. Temperature is 37.0 ºC (98.6 ºF), pulse is 114/min, respirations are 24/min, blood pressure is 96/50 mm Hg and oxygen saturation is 98% on room air. On examination, the patient does not want to separate from his parents and tries to get attention by pointing to his cup. Neurological exams are normal. Cardiopulmonary and abdominal exams are normal. Genetic testing shows mutations in the FMR1 gene. Which of the following physical exam findings would be expected in this patient?