Short Stature

Question 1

What is normal variant SS?

Answer 1

Short with normal growth velocity (>5cm per year).

Question 2

Pathological SS

Answer 2

Short with suboptimal growth velocity

Question 3

Def of SS

Answer 3

Height less than 3 percentile (2SD below the mean of the population) or 2SD below midparentral height

Question 4

Silver-Russell syndrome

Answer 4

Clinical features
↓ Infant length
Relative macrocephaly
Dysmorphic facial features: asymmetric triangular face with a high forehead and drooping labial commissures
Clinodactyly (crooked finger)
Normal or mildly impaired cognitive development

Question 5

Noonan syndrome

Answer 5

Proportionate short stature (often developing only after birth)
Minor facial dysmorphism, including ocular hypertelorism (a distance between the eyes that is greater than the 95th percentile) and downslanting eyes; webbed neck
Heart disease (including pulmonary valve stenosis) 
Intellectual development may be delayed, but by adulthood intelligence is normal in ⅔ of patients.

Question 6

Turner syndrome

Answer 6

Might look normal and only complain of SS (Do karyotyping for every girl).

Female phenotype
Primary ovarian insufficiency with:
Delayed puberty
Primary amenorrhea
Infertility

Cystic hygroma (posterior swelling of neck)
Lymphedema of the hands and feet in the neonatal period

Short stature 
Shield chest:
Webbed neck 
Cubitus valgus
High arched palate
Low-set posterior hairline
Osteoporosis and pathologic fractures 

Bicuspid aortic valve
Coarctation of the aorta with brachial-femoral delay
Aortic dissection

Question 7

Familial

Answer 7

SS (2SD below mean of population but within MPH) normal bone age, normal onset of puberty, minimum growth velocity of 5cm per year

Question 8

Constitutional

Answer 8

SS, delayed bone age, late onset puberty, minimum growth velocity of 5 cm

Question 9

Delayed bone age

Answer 9

Constitutional 
Hypothyroidism 
GH def
Hypercortisolism 
Chronic disease

Question 10

Normal bone age

Answer 10

Familial
Turner
Skeletal dysplasia

Question 11

GH def

Answer 11

Poor growth velocity 
Delayed bone age (delayed dentition) 
Hypoglycaemia 
Prolonged neonatal jaundice 
Micro penis 
Midline defects 
Obesity and cherubic face

Dx: MRI ,GH stimulation test