Syndromes

Question 1

Presents with cleft lip, flexed fingers with postaxial polydactyly, low set malformed ears; with median survival of 12 days
80% die by 1 year

Answer 1

Trisomy 13/Patau Syndrome

Question 2

presents with closed fists with index finger overlapping the 3rd digit and 5th digit, short sternum, rocker-bottom feet
88% die in the 1st

Answer 2

Trisomy 18/Edward Syndrome

Question 3

most common genetic etiology of moderate intellectualy disability

Answer 3

Trisomy 21/Down Syndrome

Question 4

Most common heart defects in Turner syndrome

Answer 4

Bicuspid aortic valves
Coarctation of the aorta
Aortic stenosis
Mitral valve prolapse

Question 5

features common to Noonan Syndrome

Answer 5

Short stature
low posterior hairline
Shield chest
CHD — right sided
Short/webbed neck

Question 6

Facial features of Fragile X syndrome

Answer 6

Large cupped ears
Elongated face
High arched palate

Question 7

Main clinical manifestations of Fragile X syndrome

Answer 7

Intellectual disability
Autistic behavior
Postpubertal macroorchidism
Hyperextensible finger joints
characteristic facial features —large cupped ears, elongated face, high arched palate