02-19-2008, 05:26 AM
A newborn infant is noted to have microcephaly after birth. His mother is 38 years old. She
also has a 5-year-old son who is mentally retarded and she had one previous second-trimester
miscarriage. In addition, she has a genetic disease that required a special diet, but she
discontinued the diet many years ago. On physical examination, the infant's weight and length
are both below the 10th percentile for his gestational age. He is also noted to have a grade III
systolic ejection murmur best heard at the lower left sternal border. Which of the following
conditions does the mother most likely have?
1.Fragile X syndrome
2.Galactosemia
3.Hypothyroidism
4.Maple syrup urine disease
5.Phenylketonuria
also has a 5-year-old son who is mentally retarded and she had one previous second-trimester
miscarriage. In addition, she has a genetic disease that required a special diet, but she
discontinued the diet many years ago. On physical examination, the infant's weight and length
are both below the 10th percentile for his gestational age. He is also noted to have a grade III
systolic ejection murmur best heard at the lower left sternal border. Which of the following
conditions does the mother most likely have?
1.Fragile X syndrome
2.Galactosemia
3.Hypothyroidism
4.Maple syrup urine disease
5.Phenylketonuria