Childhood syndromes

Question 1

22q is aka?

Answer 1

Di George

Question 2

2w old baby with LBW, micrognathia, urogenital malformation and rocker bottom feet

Answer 2

Trisomy 18 (Edward’s)

Question 3

A 3 year old who was noted to have hypotonia and feeding problems at birth, but is now gaining weight at a rapid rate. What is the diagnosis and what cardiac disease are they at risk of?

Answer 3

Prader Willi

Cor pulmonale

Question 4

Is there developmental delay in prader willi?

Answer 4

Yes global

Question 5

A happy, chatty child with blue eyes and widely spaced teeth and elfin facies

Answer 5

William’s syndrome

Question 6

William’s syndrome has what complication?

Answer 6

Supravalvular aortic stenosis

Question 7

A short child with low bridge of nose, frontal bossing and short proximal limbs?

Answer 7

Achondroplasia

Question 8

Complication achondroplasia?

Answer 8

Cervical-medullary compression

Question 9

Child with short stature, ptosis, wide set eyes, webbed neck and sternal deformity

Answer 9

Noonan syndrome

Question 10

Child with midline facial defects, urogenital malformations, polydactyly and rocker bottom feet

Answer 10

Trisomy 13 pataus

Question 11

Trisomy 13 and 18 have what complications (broadly)

Answer 11

Cardiac, neuro, GI

Question 12

Flat facial profile, epicanthal folds and single palmar crease

Answer 12

Down’s

Question 13

Down’s what complications?

Answer 13

Cardiac (AVSD commonly)

Dementia 30-40yrs

Question 14

Rushfield’s spots are a feature of what condition?

Answer 14

Down’s

Question 15

Webbed neck, shield chest, feeding problems at birth and wide carrying angle of elbows?

Answer 15

Turner’s

Question 16

What is turner’s?

Answer 16

45X

Question 17

A child born with a cardiac abnormality and moderate immune deficiency. They also have a cleft palate, hypernasal speech and feeding difficulties. They are dysmorphic with wide set eyes, a small mouth and a tubular nose

Answer 17

Di George

Question 18

Di george inheritance?

Answer 18

Autosomal dominant but very often de novo

Question 19

Child with monobrow, upturned nose, thick eyelashes and low set ears?

Answer 19

Cornelia De Lange syndrome

Question 20

Axillary freckling and cafe au lait spots

Answer 20

Neurofibromatosis

Question 21

Child with white forelock, blue eyes who is deaf

Answer 21

Waardenburg

Question 22

Child with IQ of 60, large testicles, a large jaw and hyperextensible finger joints

Answer 22

Fragile X

Question 23

Fragile X is due to what?

Answer 23

Repeat expansion of CCG on X chromosome

Question 24

Prader willi is associated with which chromosome? And which other condition has a similar defect?

Answer 24

15

Angelman’s syndrome