Syndromes

Question 1

Turners syndrome heart murmur

Answer 1

Ejection systolic (bicuspid aortic valve)

Question 2

Cystic fibrosis inheritance

Answer 2

Autosomal recessive

Question 3

What is Sheehans syndrome

Answer 3

Postpartum hypopituitarism usually following large volume PPH

Question 4

Learning difficulties, macrocephaly, long face, short neck, large ears, macro-orchidism

Answer 4

Fragile X

Question 5

Microcephalic with small eyes, cleft lip/ palate, polydactyly

Answer 5

Patau syndrome (trisomy 13)

Question 6

Patau syndrome chromosome abnormality

Answer 6

Trisomy 13

Question 7

Micrognathia, low set ears, rocker bottom feet, overlapping fingers

Answer 7

Edwards syndrome (trisomy 18)

Question 8

Edwards syndrome chromosome abnormality

Answer 8

Trisomy 18

Question 9

Webbed neck, pectus excavatum, short stature, pulmonary stenosis

Answer 9

Noonan syndrome

Question 10

Micrognathia, posterior displacement of the tongue, cleft palate

Answer 10

Pierre-Robin syndrome

Question 11

Hypotonia, hypogonadism, obesity

Answer 11

Prader-Willi syndrome

Question 12

Polycystic kidney disease inheritance

Answer 12

Autosomal dominant

Question 13

Kartageners vs CF?

Answer 13

Kartageners (primary ciliary dyskinesia) causes hearing loss