Examination: the child with short stature

Tom has been referred to your clinic because of concerns that he has short stature. He is 5 years old and is below the 5th centile for his height. How do you approach the examination?

First, consider the possible causes of short stature…

These can be divided into pathological, and non-pathological

Non-pathological

Short stature can be familial:

• The child would have a normal growth velocity and no sign of disease
• The bone age would be similar to the chronological age
• Consider the heights of both parents

It can be due to constitutional delay:

• Normal birth history and growth in infancy
• One parent may have had delayed growth but with an average final height

Pathological:

With dysmorphic features:

• Russell-Silver
• Noonan syndrome
• Down syndrome
• Turner syndrome
• Exposure in the antenatal period – alcohol, drugs

With proportionate height and weight:

• Congenital heart disease
• Cystic fibrosis
• Inflammatory bowel disease
• Chronic kidney disease
• Iatrogenic e.g. radiation or steroids

Increased weight:height ratio

• Hypothyroidism
• Cushing’s syndrome
• Prader-Willi
• Bardet-Beidl
• Pseudohypoparathyroidism
• Growth hormone deficiency
• Hypopituitarism

You could also use the mnemonic IS NICE:

I: Idiopathic (constitutional, familial), Intrauterine (alcohol, TORCH, IUGR)

S: Skeletal (achondroplasia, MPS, osteogenesis imperfecta, scoliosis), Syndromes (Russell-Silver, Kallman), Septo-optic dysplasia

N: Nutritional, Neglect

I: Iatrogenic (radiation, steroids)

C: Chronic disease (CKD, CF, CHD, IBD), Chromosomal (Turner, Noonan, Down), Craniopharyngiomas

E: Endocrine (GH deficiency, hypothyroidism, pseudohypoparathyroidism, hypopituitarism, Cushing)

Then, approach the examination with four key areas: inspection, measurements, manoeuvres, examination.

Inspection

• Look for dysmorphic features
• Look for any obvious disproportionate measurements e.g. long arms, short trunk, large head
• Consider pubertal stage
• Have a quick glance for any central lines, or gastrostomy sites
• Consider nutritional status

Measurements

• Height
• Weight
• Head circumference
• View previous centile charts
• Blood pressure
• Lower segment (from pubis symphysis to the groun)
• Upper segment (total height minus lower segment)
• Calculate upper segment to lower segment ratio (normal is 1.7 at birth, 1.0 at 8 years, 0.9 at 16 years)
• Measure arm span
• Calculate height minus arm span (normal is -3cm at birth, 0 from 8-12 years, +1 cm for girls and +4 cm for boys at 14 years)
• Calculate mid parental height

Think about how to interpret these results. For example, if the US:LS ratio is high this suggests short limbs; if the US:LS is low this suggests a short trunk.

How to calculate mid-parental height:

For girls:

(height of mum + (height of dad – 13))/2 +/- 6cm

For boys:

((height of mum + 13) + height of dad)/2 +/- 7.5cm

Manoeuvres

Arms

1. Carrying angle – wide in Turner and Noonan syndromes
2. Touch thumbs to shoulders to check for short limbs or proximal segment shortening
3. Check palms for single palmar crease or clindodactyly such as in Russell-Silver
4. Check for symmetry – put arms out straight and palms together. Check legs too.
5. Look at the shape of the hands (i.e. in achondroplasia there is a trident deformity)
6. Make a fist and look for short fourth metacarpal (i.e. pseudohypoparathyroidism)

Head

1. Look at the forehead – flat or prominent
2. Look at the chin for micrognathia

Back

1. Check out the shape of back for scoliosis
2. Ask the child to bend forward

Then do the rest of the examination….

Complete a general systems examination:

• Hands/arms: nails, hands, pulse, joints, BP
• Face: hair, eyes, mouth/chin, ears, hairline, thyroid, neck (webbing, short neck)
• Chest: heart sounds, deformity, lungs
• Abdo: usual examination
• Genitalia: must check pubertal staging
• Back, limbs, and gait

References

Childhood short stature, AJMS.

Evaluation of short and tall stature in children, American Family Physician

Examination paediatrics, Wayne Harris, 2012, Churchill-Livingstone.