A newborn has a flat face, upward slanting eyes, a single palmar crease and hypotonia. What is the diagnosis?
Answer and explanation
Correct answer: B. Down syndrome
- Step 1: These are typical features of trisomy 21.
Answer
Down syndrome.
Why not the others: Edwards syndrome, Turner syndrome and Klinefelter syndrome do not fit.
Practise more Clinical Cases.
Free questions with an explanation for every one, and full timed SMLE (Saudi Medical Licensing Exam) mock tests.
More Clinical Cases questions
- A 3-month-old infant has fever, poor feeding and a bulging anterior fontanelle. What is the next step?
- A 6-month-old has paroxysmal drawing up of the legs, vomiting and redcurrant jelly stool. What is the diagnosis?
- A 3-week-old boy has projectile non-bilious vomiting after every feed and a palpable olive-shaped mass. What is the diagnosis?
- A newborn has bilious vomiting on the second day of life and a double-bubble sign on abdominal X-ray. What is the diagnosis?
- A 2-year-old has a barking cough, stridor and a steeple sign on neck X-ray. What is the treatment?
- A 4-year-old has fever, drooling, muffled voice and a toxic look. What is the diagnosis?