02-19-2008, 09:48 PM
A 2-week-old infant is brought to the office for a newborn visit. His mother states that he has
been a very slow eater and that he is constipated, not having had a bowel movement in 3
days. On physical examination, the infant has poor muscle tone, an enlarged tongue, an
umbilical hernia, an enlarged anterior fontanelle, and hypothermia. He also looks slightly
jaundiced, with slightly dry skin and brittle hair. Which of the following is the most likely
diagnosis?
1.Beckwith-Wiedemann Syndrome
2.Congenital hypothyroidism
3.Hurler syndrome
4.Trisomy 21
5.Turner syndrome
been a very slow eater and that he is constipated, not having had a bowel movement in 3
days. On physical examination, the infant has poor muscle tone, an enlarged tongue, an
umbilical hernia, an enlarged anterior fontanelle, and hypothermia. He also looks slightly
jaundiced, with slightly dry skin and brittle hair. Which of the following is the most likely
diagnosis?
1.Beckwith-Wiedemann Syndrome
2.Congenital hypothyroidism
3.Hurler syndrome
4.Trisomy 21
5.Turner syndrome