A healthy newborn is noted to have a single palmar crease, a sandal gap between the first and second toes, low-set ears, and hypotonia. An

Question

A healthy newborn is noted to have a single palmar crease, a sandal gap between the first and second toes, low-set ears, and hypotonia. An echocardiogram shows an AVSD. What is the most likely underlying diagnosis?

Accepted Answer

Down syndrome (Trisomy 21)

Answer

Edwards syndrome (Trisomy 18)

Answer

Patau syndrome (Trisomy 13)

Answer

Noonan syndrome

Answer

Turner syndrome

Down Syndrome — RACP Paediatrics MCQ

A healthy newborn is noted to have a single palmar crease, a sandal gap between the first and second toes, low-set ears, and hypotonia. An echocardiogram shows an AVSD. What is the most likely underlying diagnosis?