3.2 Short stature & faltering growth

Question 1

What is the definition of faltering growth?

Answer 1

Babies and toddlers who do not gain weight as well as expected (compared to increase in height)

Question 2

What is the definition of short stature?

Answer 2

Height < 2nd centile (2 SD below mean); may be defined < 0.4th centile

Question 3

what is the definition of growth failure?

Answer 3

Height falling through the centiles (child may still be normal height)

Question 4

What is the cause of faltering growth?

Answer 4

Inadequate nutritional intake (> 95% of cases)

• Inadequate available
• Psychosocial deprivation
• Neglect/ child abuse

Underlying pathology (< 5% of cases)

• Anorexia: Secondary to chronic illness
• Impaired suck/swallow: Neurological (e.g. cerebral palsy), anatomical (e.g. cleft palate)
• Inadequate retention:Vomiting, severe GORD
• Malabsorption: Coeliac disease, cystic fibrosis, cow’s milk protein intolerance, short gut syndrome, post-NEC
• Failure to utilise: Chromosomal abnormalities (e.g. Down’s syndrome), congenital infections (e.g. TORCH), metabolic diseases
• increased requirmements: Thyrotoxicosis, cystic fibrosis, malignancy, chronic infection (immunodeficiency), HIV, congenital heart disease, chronic renal failure

Question 5

what is catch up growth?

Answer 5

Some babies with low birth weight gain weight well → rise through centiles after birth to “catch-up” towards their genetic potential
• Often incomplete (may remain smaller than other children)

Question 6

what is catch down growth?

Answer 6

Some babies with high birth weight lose weight → drop through centiles after birth to adjust towards what is normal for them
• May appear like failure to thrive initially, but they should grow along the centile once they have reached what is normal for them

Question 7

how is the growth like for children who are short because of familial reasons?

Answer 7

Commonest cause → child growing within the centile range for mid-parental height (similar to parents) with normal bone age:

Question 8

how is the growth like for children who are short because of constitutional delay of growth and puberty?

Answer 8

Delay of growth and puberty is often idiopathic → child will reach his/her normal adult height but has delayed bone age

Question 9

how is the growth like for children who are short because of IUGR/ extreme prematurity?

Answer 9

May have catch-up growth (but insufficient to compensate) → 1/3 of patients have short stature

Question 10

what is the characteristics of noonan syndrome?

Answer 10

webbed neck, flat nose bridge, ptosis, pectus excavatum, cardiac abnormalities (pulmonary valve stenosis, ASD)

Question 11

what is the characteristic of russell- silver syndrome?

Answer 11

triangular-shaped face with small jaw and pointed chin, curvature of 5th finger (clinodactyly)

Question 12

what is the characteristic of prader- willi syndrome?

Answer 12

hypotonia, excess weight gain, global developmental delay, characteristic face

Question 13

what is the cause of a disproportionatel short back?

Answer 13

scoliosis

Question 14

what is the cause of disproportionately short legs?

Answer 14

skeletal dysplasia (e.g. achondroplasia)

Question 15

in what conditions will a child be both short and underweight?

Answer 15

Chronic illness
• Anorexia, dietary restrictions, increased requirement due to high metabolic rate
• Chronic diseases associated with poor growth: coeliac disease, Crohn’s disease, chronic renal failure, cystic fibrosis

Undernutrition: Insufficient intake, poor appetite, behavioural issues in eating

Psychosocial deprivation: Child may be short and underweight with delayed puberty → difficult to identify but catch-up growth if moved to nurturing environment

Question 16

Inn what conditions will a child be relatively overweight (high weight for height)

Answer 16

Endocrine
• Hypothyroidism
• GH deficiency (bone age markedly delayed): isolated or panhypopituitarism (with congenital mid-facial defects, craniopharyngioma [bitemporal hemianopia, optic atrophy, papilloedema], hypothalamic tumour, trauma, meningitis, cranial irradiation)
• Corticosteroid excess (usually iatrogenic from steroid treatment → other causes are rare in childhood)

Question 17

Constitutional delay of puberty: what is the ratio of length of legs to body? what is the treatment?

Answer 17

Child’s legs are usually long compared to back → may drop through centiles (peers enter pubertal growth spurt while they continue at the childhood rate of growth) but will reach final expected height:

Treatment: testosterone/oestrogen (to prompt puberty → avoid use as much as possible)

Question 18

what are the indications for growth hormone replacement?

Answer 18

• Growth hormone deficiency
• Turner syndrome (45XO)
• Prader-Willi syndrome
• Chronic renal insufficiency
• Persisting growth failure at 4 years old in SGA children

Question 19

what are the indications for cessation of growth hormone replacement?

Answer 19

• Growth velocity fails to increase by ≥ 50% from baseline in 1 year
• Final height approached or growth velocity < 2cm/year
• Adequate adherence cannot be achieved
• Final height is achieved

Question 20

Tall babies: in what conditions are they proportionately tall?

Answer 20

• Beckwith-Wiedemann syndrome (macroglossia, omphalocele or umbilical hernia, ear creases/pits, neonatal hypoglycaemia)
• Maternal diabetes (high glucose available to foetus)

Question 21

Tall babies: in what conditions are they tall with long legs?

Answer 21

• Marfan syndrome
• Klinefelter syndrome (47XXY)
• Homocystinuria (high-arched feet, genu valgum, pectus carinatum/excavatum, learning disability, eye diseases, atheroma & thrombosis)

Question 22

what are rarer causes of tall babies?

Answer 22

• Sotos syndrome: Large head with characteristic face and learning difficulties
• Hyperthyroidism
• Excess sex steroids (precocious puberty causes tall stature during growth spurt)
• Congenital adrenal hyperplasia (CAH)
  True gigantism (GH excess from pituitary tumour)