Genetic

Question 1

Child who is <3%ile in height and weight, preserved head circumference. Triangular face.

Answer 1

A. Russell Silver

Question 2

Russel sliver

Answer 2

1-triangular facies
2- fifth finger clinodactyly
3-micrognathia with narrow chin
4-Risk hypoglcemia

Question 3

Adrenoleukodystrophy

Answer 3

behavior problems, Ataxia then progressive developmental delay, ataxia, tan lines

Question 4

BWS

Answer 4

1-Ear lobe creases
2-one side bigger than other.
3-Wilms Tumor
4-neonatal hypoglycemia

Question 5

Development coordination disorder

Answer 5

clumsy, can’t hoop
poor handwriting
low tone
normal reflexes
Normal neuro exam

Question 6

Duchenne muscular dystrophy

Answer 6

X-linked
recessive
proximal muscle weakness.
positive Gower sign
calf hypertrophy

Question 7

Rett syndrome

Answer 7

constant repetitive hand movements.

Question 8

Lesch-Nyhan syndrome

Answer 8

developmental delay, gout, kidney stones, self mutilation with head banging and finger biting. Inheritance pattern
linked recessive

Question 9

Fetal retinoid syndrome

Answer 9

bilateral micro-ophthalmia, bilateral hypoplastic ears, truncus arteriosus

Question 10

Marfan

Answer 10

No weightlifting

Question 11

Fanconi anemia

Answer 11

Skin: cafe au lait spots
Bone: bifid thumbs, short stature, small head
pancytopenia (bone marrow failure)
malignancy

Question 12

William

Answer 12

FTT
mouth thick lips
Happy child
Stellate iris
supravalvular aortic stenosis
High Ca

Question 13

What is the inheritance pattern on Sturge Weber Syndrome?

Answer 13

Sporadic

Question 14

Microarray testing best able to detect

Answer 14

22q11
DiGeorge syndrome

Question 15

Turner syndrome, cardiac

Answer 15

CoA, bicuspid aortic valve, aortic stenosis

Question 16

Transient myeloproliferative disorder

Answer 16

trisomy 21
high WBC
low Hb and PLT

Question 17

Prader Willi

Answer 17

DNA methylation studies