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Decreased risk of developing acute lymphocytic leukemia
0%
0/21
Much later onset of Alzheimer disease
Cardiac murmur
95%
20/21
Passed meconium after 48 hours
5%
1/21
Hypertonic as an infant
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The patient’s physical exam findings in the setting of advanced maternal age at birth is highly suggestive of Down syndrome (Trisomy 21). Congenital heart disease is prevalent in this patient population, with endocardial cushion defects (leading to atrioventricular septal defects) being most common. Most cases are not inherited; however, approximately 95% of cases are due to meiotic nondisjunction, which is associated with increasing maternal age. Patients with Down syndrome may present with a myriad of deficits; these include intellectual disability, hypothyroidism, altered facial features, and congenital heart defects. Down syndrome is also associated with an earlier onset of Alzheimer disease, and these patients are at increased risk of developing leukemia. Figure A shows brushfield spots. These light spots are more commonly seen in patients with Down syndrome. Incorrect Answers: Answer 1: There is an increased risk of developing acute lymphocytic leukemia in patients with Down syndrome Answer 2: Down syndrome is associated with an earlier onset of Alzheimer disease. Answer 4: There is an increased incidence of Hirschprung disease in Down syndrome patients. A delay in the passage of meconium (greater than 48 hours) can suggest Hirschprung disease but the incidence congenital heart disease is greater than Hirschsprung disease. Answer 5: Hypotonia is a feature in patients with Down syndrome
5.0
(5)
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