Syndromes

Question 1

supravalvular stenosis and cheerful child + ‘Elfin’ facies, transient hypercalcaemia

Answer 1

Williams Syndrome

Question 2

Rockerbottom Feet

Answer 2

Trisomy 13 and 18

Question 3

Cleft palate, retrognathia (severe overbite)

____ goes to the MCG

Answer 3

Pierre Robin sequence

Robin goes to the MCG - micrognathia, cleft palate, glossoptosis (tongue goes backwards)

Question 4

neck webbing + low set ears. Affects both sexes. Pulmonary stenosis,

Answer 4

Noonan’s syndrome

Question 5

aortic dissection, rupture, aortic coarctation

Answer 5

Turner syndrome

Question 6

pulmonary stenosis
Liver problems
TOF
Butterfly vertebrae

Answer 6

Alagille Syndrome

Question 7

long face, out turned ears, large testes

Answer 7

Fragile X

Question 8

laughing paroxysms, uplifting arm

Answer 8

Angelman syndrome

Question 9

elfin facies
Transient hypoglycaemia
supravalvular aortic stenosis

Answer 9

Williams syndrome

Question 10

5 causes of Primary amenorrhoea

Answer 10

1. Gonadal dysgenesis:
   ○ Turner syndrome - no menstruation no periods no fertility
   ○ Swyver syndrome - female with streak gonads
2. Androgen insensitivity
   ○ Complex range of disorders - look female (phenotypically),
3. Mullerian agenesis (missing uterus and varying vaginal hypoplasia)
   ○ Normal secondary sexual characteristics, ovulation occurs
   ○ Vagina may be shortened
4. Obstructive - vaginal atresia, imperforate hymen
5. Hypothalamic - Kallman syndrome

Question 11

5 stages of female puberty

Answer 11

1. Growth spurt prior to menarche
2. Thelarche
3. Adrenarche - pubic than axillary
4. Menarche 12.7 years
5. Urogenital development

Question 12

Secondary causes of amenorrhoea x 3

Answer 12

Outflow tract 
	- Asherman's syndrome 
Gonadal causes
	- Pregnancy and breastfeeding 
	- Menopause / premature menopause
- PCOSContraceptive hormones - esp depo provera
Endocrine causes
	- Exercise eating disorders 
	- Prolactinaemia Sheehans syndrome
       -  Hypo/hyperthyroidism

Question 13

Definition of short stature and poor growth

Answer 13

Short stature: height below 3rd percentile OR >2.5 standard deviation below mean
Poor growth - height velocity below 25th percentile for that population

Question 14

causes of short stature x4

Answer 14

20% of preterm infants with very low birthweight or SGA infants
Hypothyroidism
Familial short stature
Constitutional delay in maturation

Question 15

Definition of precocious puberty

Answer 15

When pubertal changes occur before 6 years and/or

menarche before 8 years of age

Question 16

Causes of precocious puberty

Answer 16

Central causes: 
	- Idoipathic 
	- Intracranial tumours - craniopharyngioma 
	- CNS lesions 
Peripheral causes 
	- Gonadal - Mccune allbright 
Adrenals

Question 17

Hypotonia, hypogonadism, poor feeding at birth - later on insatiable hunger

Answer 17

Prader Willi Syndrome

Question 18

Newborn with micrognathia, cleft palate, glossoptosis?

Answer 18

Pierre Robin Sequence

Question 19

Rockerbottom feet + omphalocoele + clenched hands -

Answer 19

Edward Syndrome