Syndromes

Question 1

What percentage of t21 babies have cardiac defects

What are the cardiac defects?

Answer 1

50%
Avsd
VSDs
Tofs

Question 2

Edwards syndrome

What is the genetic defect

Characteristic hand feet and facial features
Cardiac defects
Prognosis

Answer 2

Trisomy 18 
Clenched fists with over riding fingers. Hypoplastic nails 
Rocker bottom feet 
Septal defects
Very poor prognosis

Question 3

Patau syndrome
Genetic defect?
Features
Cardiac lesions

Answer 3

Trisomy 13
Midline facial defects and clefts
Microcephalic cutis aplasia
Septal defects

Question 4

Williams syndrome 
Genetic defect?
Face
Mannerisms 
Heart
Renal

Answer 4

7q11 microdeletion (elastin gene)

Wide eyes, starry eyes, wide mouth with spaced teeth
Cocktail party manner
Supravalvular aortic, peripheral pulm
Artery stenosis

Question 5

Noonan syndrome
Genetic defect
Facial features?
Cardiac features

Answer 5

Ptpn11
Inverted triangle, wide eyes, low ears
HOCM and supravalvular PS

Question 6

Algille syndrome
Genetic defect
Facial features
Cardiac features
Why are they jaundice

Answer 6

Jag1 defect ch 20
Wide forehead and pointed chin
Peripheral ps
Bile duct hypoplasia

Question 7

Di George

Features using mnemonic?

Answer 7

C- cardiac (interrupted arch, tof and truncus
A- wife face wide eyes small mouth and smooth short philtrum. Small rotated ears
T-thymidine hypoplasia
C- cleft
H- hypoparathyroid

22q11 deletion

Question 8

CHARGE syn
Features
Mutation

Answer 8

CHD 7 
C- Colomboma 
H- heart- TOF and Truncus 
A- coanal atresia 
R- retardation 
G- GU 
E- ears 

CHD 7

Question 9

What syndrome is similar to noonans syndrome with severe FTT
what are two other characteristic features
What cardiac lesions are seen

Answer 9

Costello syndrome
Redundant skin and characteristic hand position
Cardiomyopathy and

Question 10

What cardiac lesions are seen in LEOPARD syndrome

Answer 10

Pulmonary stenosis and arrhythmia

Question 11

Syndromes with hearing loss
Which has hypothyroidism
Which has hypopigmentation and two different colours of eyes

Answer 11

Pendred

Waardenburg

Question 12

Which gene
Marfans
OI
Achondroplasia

Answer 12

FBN1
Col1A
FGR3

Question 13

Which gene
NF1
TS

Answer 13

Ch 17

TSC 1&2

Question 14

Which gene 
Noonans
Turners 
Williams 
Prader willi 
CHARGE 
Di George
Alagille

Answer 14

PTPN11
450X
7q11
15q11
CHD7
22q11
JAG1/ NOTCH2

Question 15

Which gene
Rett syndrome
Fragile X

Answer 15

MECP2

CGG repeats

Question 16

Which syndrome is like Marfans with severe aortic dilatation

Answer 16

Loeys dietz

Question 17

Which gene
Alpert
IPEX

Answer 17

Col4A

Fox 3