did not hear about this disease before, must review
USMLE Step 1 Community
154 followers
20 Mar 2024
new disease!
Question:
A newborn baby is brought to the pediatrician by his parents for a regular checkup. The baby is feeding well and there are no concerns. On physical examination, the baby's weight, length, and head circumference are all on the 50th percentile. However, you notice that the baby has a large tongue, hypotonia, and an umbilical hernia. Which genetic condition is most likely present?
Options:
A)Marfan syndrome
B)Turner syndrome
C)Edward's syndrome
D)Down syndrome
E)Beckwith-Wiedemann syndrome
new disease!
Question:
A newborn baby is brought to the pediatrician by his parents for a regular checkup. The baby is feeding well and there are no concerns. On physical examination, the baby's weight, length, and head circumference are all on the 50th percentile. However, you notice that the baby has a large tongue, hypotonia, and an umbilical hernia. Which genetic condition is most likely present?
Options:
A)Marfan syndrome
B)Turner syndrome
C)Edward's syndrome
D)Down syndrome
E)Beckwith-Wiedemann syndrome
Hi Anusree - this might help with revision of Beckwith-Wiedemann Syndome:
https://www.childrenshospital.org/conditions/beckwith-wiedemann-syndrome#:~:text=What is Beckwith-Wiedemann syndrome,hypoglycemia (low blood sugar).
https://medlineplus.gov/genetics/condition/beckwith-wiedemann-syndrome/
https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/beckwith-wiedemann-syndrome-bws/
Hi Anusree - this might help with revision of Beckwith-Wiedemann Syndome:
https://www.childrenshospital.org/conditions/beckwith-wiedemann-syndrome#:~:text=What is Beckwith-Wiedemann syndrome,hypoglycemia (low blood sugar).
https://medlineplus.gov/genetics/condition/beckwith-wiedemann-syndrome/
https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/beckwith-wiedemann-syndrome-bws/