Paediatrics JC119: The Short Child: Child Growth And Development Flashcards
Growth disorders
- Short stature
- Tall stature
Normal growth:
- Adequate lengthening of skeleton replies upon complex interaction between variables
1. **Genetic
2. **Hormonal
3. ***Nutritional
4. Psychological
Newborn’s size determined by intrauterine environment:
1. **Maternal size
2. **Nutrition
3. General health
4. Social habits (e.g. smoking status)
Growth velocity during childhood
- Greatest in late fetal life
—> ↓ until **estrogen-mediated epiphyseal fusion occurs in adolescence
—> except during **pubertal growth spurt (升翻上去) - Growth rate ~ in both genders until puberty (boys **later pubertal growth spurt but **higher velocity)
- HK Average height: 171cm for male, 158cm for female
Felix Lai:
- Growth failure is likely in the following
1. Height-for-age curve has deviated downwards across 2 major height percentile curve
2. Child is growing slower than the following rates
- Age 2-4: HV <5.5 cm/year
- Age 4-6: HV <5 cm/year
- Age 6-puberty: HV <4 cm/year (males) or HV <4.5 cm/year (females)
Short stature
Important to determine whether due to **normal variant of growth / **underlying pathological condition
2 normal variants with short stature:
1. **Familial short stature
2. **Constitutional delay in growth / development
Constitutional delay vs Familial short stature
1. Height: Short vs Short
2. Midparental height: Normal vs Short
3. Bone age: **Delayed vs Not delayed
4. Growth rate: Slow vs Normal
5. Height prognosis: **Good (遲早長高翻) vs Poor
***History taking in Short stature
***記: Birth, Immunisation, Feeding, Developmental
- Maternal pregnancy history
- Birth + ***Perinatal history
- ***Birth weight, length
- Onset + Duration of **catch-up / **catch-down growth after birth
- Serial height measurements documented over time on a growth chart
—> assess **Prepubertal, **Pubertal growth velocity - ***Nutritional history
-
**Family heights + **Maturation history
- **Midparental height (MPH)
—> Boys: (Father + (Mother+13)) / 2
—> Girls: ((Father-13) + Mother) / 2
—> 3rd / 97th centile for child are **8.5 cm to either side of MPH
- Family history of delayed growth / pubertal developmental (e.g. age of menarche of mother, age of growth spurt) - Systems review for chronic illness
- Psychosocial history
Physical examination in Short stature
- Body height, BW, Head circumference
- ***Body proportions
- Arm span
- Upper to Lower segment ratio - ***Dysmorphism
- Dentition + Midline defects (e.g. Septo-optic dysplasia (SpC Revision))
- ***Visual fields + Fundoscopic examination (if suspected pituitary tumour)
- ***Thyroid assessment
- Specific systems screening
Investigations of Short stature
- Blood
- CBP
- ESR
- LRFT
- Electrolytes
- **Bone profile
- **Thyroid function
- ***IGF-1 - ***Bone age
- X-ray of left hand - ***Karyotype for Girls
- rule out Turner syndrome (∵ presence of mosaicism —> no classical phenotype features): complete / partial absence of 1 X chromosome - ***Provocative GH testing
Features suggestive of pathological cause of Short stature
- ***Body height <1st centile
- ***Abnormally short for family heights
- History / P/E suggestive of chronic illness
- ***Abnormal growth velocity
- ***Abnormal body proportions
- ***Dysmorphic features / Midline defects
**Pathological causes of short stature: **Endocrine PICNICS
(Psychological, Iatrogenic, Chronic illness, Nutritional, IUGR, Chromosomal, Skeletal dysplasia)
- Endocrine
- **Hypothyroidism
- **GH deficiency
- ***Cushing syndrome (inhibit GH action) - Psychological
- Deprivation - Iatrogenic
- ***Glucocorticoid usage
- Spinal radiation - ***Chronic illness
- Nutritional
- ***IUGR (Intrauterine growth restriction —> SGA)
- Unknown etiology
- Part of a syndrome (e.g. Russell-Silver syndrome) - ***Chromosomal
- Turner syndrome
- Noonan syndrome
- Down syndrome
- Prader-Willi syndrome - ***Skeletal dysplasia
- Achondroplasia
- Hypochondroplasia
***4 Major groups of Short stature
- Dysmorphism with recognisable syndrome
- **Down syndrome
- **Turner syndrome
- **Noonan syndrome
- **Russell-Silver syndrome - Disproportionate short stature (usually need a **skeletal survey for diagnosis)
- Short back + limbs
—> Spondyloepiphyseal dysplasia (short trunk, kyphoscoliosis)
—> **Mucopolysaccharidosis
- Short limbs (e.g. Rhizomelic shortening (shortening of proximal long bone i.e. humerus, femur))
—> **Achondroplasia
—> **Hypochondroplasia
(—> Thanatophoric dysplasia type 1 / 2 (SpC Revision))
- Short but thin (need to search for **chronic illness)
- **CVS disease
- **Respiratory disease (e.g. **Cystic fibrosis)
- ***Malabsorption / Chronic IBD
- Chronic renal failure
- Psychosocial deprivation
- Anorexia nervosa
- Rickets
- Thalassaemia - Short + Fat (suggestive of **endocrine cause)
- **Panhypopituitarism
- **Isolated GH deficiency
- **Hypothyroidism
- Pseudohypoparathyroidism
- **Cushing’s syndrome
- **Prader-Willi syndrome
Down syndrome
- Flat facial profile
- ***Flat occiput
- ***Prominent Epicanthic fold
- ***Upward slanting eyes
- ***Flat nasal bridge
- Protruding tongue
- ***Simian crease in hands
- Clinodactyly (歪指)
- Gap between 1st / 2nd toes (Sandal gap toes)
- Developmental delay
- Hypotonia
- ***AVSD, VSD, PDA
Turner syndrome
Phenotype highly variable
1. Short stature
2. **Low posterior hairline
3. **Low set ears
4. Narrow, high arched palate
5. **Webbed neck
6. **Broad chest with widely-spaced nipple
7. **Cubitus valgus (↑ carrying angle)
8. **Left-sided cardiac lesions (e.g. **Coarctation of aorta, **Bicuspid aortic valve)
9. ***Horseshoe kidney
10. Streak ovaries, amenorrhoea, infertility
11. Hypothyroidism
12. Concave hypoplastic nail (SpC Revision)
(Normal intelligence)
SpC Revision:
- Sporadic disorder with complete / partial absence of 2nd X chromosome
- Incidence 1 in 2000-2500 live female births
- Should be considered in short girls, even in the presence of pubertal signs (∵ can have Mosaic turner)
- Marked serum gonadotropins from as early as 8-9 years (∵ lack of negative feedback)
- Pure XX and XY gonadal dysgenesis both present with delayed puberty, ↑ Gonadotropins + ↓ Sex steroids
- The XY gonadal dysgenesis group reared as girls have high risk of gonadal tumours, thus need surgery for removal of gonads
Noonan syndrome
- Autosomal Dominant (Vinson Cheng)
- Genetic mutation (e.g. ***PTPN11 mutation (SpC Revision))
- a ***RASopathies (along with Costello syndrome, CFC (Cardiofaciocutaneous syndrome)
- Atypical facial appearance
- **(Orbital) Hypertelorism
- **Downward slanting eyes
- ***Low set, abnormally shaped / posteriorly rotated ears - Short stature
- ***Broad / Webbed neck
- Heart defects
- **Hypertrophic obstructive cardiomyopathy
- ASD, VSD
- **PS - Vision problems
- Hearing loss
- Abnormal bleeding / bruising
- ***Pectus excavatum / carinatum
- Mild developmental delay / Intellectual disability
Russell-Silver syndrome
Cause:
- Largely unknown
- mat dup 11p15.5 (also implicated in Beckwith-Wiedemann syndrome)
- matUPD7
- Born SGA / Low birthweight (< -2 SD) (IUGR-related (SpC Revision))
- Short stature (< -2 SD)
- ***Relative macrocephaly (Normal head circumference which may appear large ∵ small body size)
- ***Triangular face
- ***Broad forehead
- ***Pointed chin
- ***Clinodactyly of 5th finger (尾指歪左)
- ***Limb / body / facial asymmetry / hemihypertrophy
- Hypospadias
- ***Feeding difficulty during infancy
- Hypoglycaemia (need GH supplementation for low glucose + poor growth)
- Normal head circumference (SpC Revision)
- Developmental delay
- Urogenital features (e.g. Hypospadias, Urethral valves, Horseshoe kidneys, Cryptochidism)
Mucopolysaccharidosis (MPS)
MPS subtypes share common characteristics + is a progressive multisystemic disorder
- MPS type 6: Maroteaux-Lamy syndrome
- MPS type 4a: ***Morquio syndrome
- MPS type 1: Hurler syndrome
Facial features:
1. Broad nose
2. Flat nasal bridge
3. **Prominent eyes
4. Enlarged tongue + lips
5. **Prominent forehead
6. ***Macrocephaly
7. Coarse hair
Extra-skeletal symptoms:
1. **Chronic rhinitis / otitis media
2. Obstructive airway disease
3. Skin thickening
4. **Corneal clouding
5. **Hearing loss
6. Enlarged tongue
7. **Valvular heart disease
8. Hepatosplenomegaly
9. ***Umbilical / Inguinal hernia (need to reduce early otherwise later on when develop hepatosplenomegaly will be difficult to operate)
10. Developmental delay
11. Abnormal facial features
Skeletal / Joint symptoms:
1. **Evolving joint contracture without signs of inflammation —> Fixed joint deformity early in life
2. **Cervical spine stenosis / Cord compression
3. **Pectus carinatum
4. **Kyphosis / Scoliosis
5. Bilateral hip dysplasia
6. Genu valgum
7. Waddling gait / Reduced mobility
8. ***Short stature of unknown reason
9. Idiopathic carpal tunnel syndrome
10. Multiple joint pain
Rhizomelic shortening: Achondroplasia
- Autosomal dominant (AD) inheritance
- ***FGFR3 gene gain-of-function mutation
- Short stature at birth
- ***Rhizomelic shortening of arms + legs (can be diagnosed antenatally)
- ***Head disproportionately large + Prominent forehead
- ***Thoracolumbar kyphosis (gibbus)
- ***Trident hand with brachydactyly (short fingers)
—> short digits + wide hands
—> hand resembles a trident (三叉戟) (thumb + 2nd/3rd finger + 4th/5th finger)
—> characteristics of both achondroplasia + hypochondroplasia
Skeletal survey (SpC Revision):
- Excessive skinfold
- Trident hand
- Narrow sciatic notch
- Widened metaphysis
- Spikes at metaphysis
Rhizomelic shortening: Hypochondroplasia
- ***FGFR3 gene mutation (SpC Revision)
- Short-limbed short stature
- Considerable shortening of upper + lower limb
- Marked bowing of legs
- **In contrast to Achondroplasia, Head size + Facial features are **normal
- Short but thin (need to search for chronic illness)
Chronic disease:
1. **CVS disease
2. **Respiratory disease (e.g. **Cystic fibrosis)
3. **Malabsorption / Chronic IBD
4. Chronic renal failure
5. Psychosocial deprivation
6. Anorexia nervosa
7. Rickets
8. Thalassaemia
- Short + Fat (suggestive of endocrine cause)
Endocrine cause:
1. **Panhypopituitarism
2. **Isolated GH deficiency
3. **Hypothyroidism
4. Pseudohypoparathyroidism
- **short 4th, 5th metacarpals
- target organ resistance to PTH
- **HypoCa —> Carpopedal spasm
- ↑ PO4
- ↑↑ PTH
- Short stature, obesity, developmental delay
- **Calcification of basal ganglia in deep white matter of brain
- ***Cushing’s syndrome
- ***Prader-Willi syndrome
DDx of Obesity + Mental retardation (Vinson Cheng):
- Pan-hypopituitarism
- Hypothyroidism
- Prader-Willi syndrome
Prader-Willi syndrome
- Short stature
- ***Long + Narrow head at birth
- ***Narrow face
- ***Distinct almond shaped eyes
- Small mouth + corners curved downward
- Thin upper lip
- Small upturned nose
- ***Small hands + feet
- ***Hypogonadism leading to genital hypoplasia (Felix Lai)
—> Cryptorchidism
—> Scrotal hypoplasia
—> Labia minor / Clitoral hypoplasia - ***Obese (not a must) (Vinson Cheng)
- ***Mental retardation
- **Genomic Imprinting: deletion of the **paternal copies of SNRPN and Necdin genes
- Dolichocephaly (SpC Revision)
- ***Hypotonia + Poor feeding —> Failure to thrive
- Treatment: ***GH injection (Growth promoting effect + Lipolytic effect)
Treatment of Short stature
Depend on underlying etiology
1. Explanation + Reassurance if non-pathological cause
2. Explore issues around school, sport, family —> help encourage short children to feel comfortable with their height outcome
3. Referral to a paediatric endocrinologist if suspect pathological cause
Tall stature
Far less common presenting problem than Short stature
Causes:
1. ***Familial tall stature (vast majority)
- Endocrine causes
- **Hyperthyroidism
- Precocious puberty
- **GH secreting tumours - Syndromal causes
- **Klinefelter syndrome
- **Marfan syndrome
- **Sotos syndrome
- **Homocystinuria (very rare, can be screened in newborn screening)
- ***Beckwith-Wiedemann syndrome
Investigations:
1. **Serial measurement: determine duration of problem + plot against father’s + mother’s height to look at basic genetic potential
—> **Crossing centiles: more likely to have underlying pathological cause
2. **TFT
3. **IGF-1
4. **Karyotype
5. **Bone age
- Familial tall stature
- Tall parents
- Family history of ***early puberty
- Bone age: helpful in demonstrating advancement in development + aid in predicting final height
- Endocrine causes of Tall stature
- Hyperthyroidism
- Precocious puberty
- tall at diagnosis but ***reduced final height (∵ premature fusion of epiphyses) - GH secreting tumours
- extremely rare in paediatrics
- Syndromal causes of Tall statures
- Klinefelter syndrome
- 47 XXY males
- **Eunuchoid body habitus, Poor musculature, Sparse body / facial hair, **Small testes, Aggressive impulsive personality - Marfan syndrome
- Autosomal dominant (AD) inheritance
- Defect in **fibrillin (FBN1) gene —> ↑ TGFβ signalling —> Hyperextensibility, **Arachnodactyly (long fingers) (thumb (Steinburg) + wrist (Walker-Murdoch) sign), Kyphoscoliosis, Aortic root problems, **Ectopia lentis (upward + outward), **High arch palate, **Dolicocephaly
- Patients with **MEN2B have a similar phenotype
- DDx:
—> Ehlers-Danlos syndrome
—> Klinefelter syndrome (Vinson Cheng)
—> Loeys-Dietz syndrome (LDS)
- Diagnosis: Ghent criteria (JC122) - Sotos syndrome
- ***Cerebral gigantism (characterised by rapid growth in early childhood) - Homocystinuria (very rare, can be screened in newborn screening)
- **Autosomal recessive (AR) inheritance
- similar phenotype to **Marfan syndrome with additional problems: **Poor bone density + **↑ Tendency to thrombosis (more likely to have stroke) (Ectopia lentis: downward + inward) - Beckwith-Wiedemann syndrome
- Sporadic
- **Imprinting gene disorder
- Five distinct errors involving **11p15 have been identified
- Fetal overgrowth syndrome with features: **Macrosomia, **Macroglossia, **Hepatosplenomegaly, **Hypoglycaemia (∵ Hyperinsulism), **Risk of malignancy esp. **Wilms’ tumour, **Hepatoblastoma (monitor AFP)
- **Microcephaly (Vinson Cheng)
- **Omphalocele / umbilical hernia
- **Hemihypertrophy
- Horizontal ear crease
- Pathology finding: Adrenal cortex cytomegaly, Placental mesenchymal dysplasia, Pancreatic adenomatosis
- DDx of big tongue:
—> Hypothyroidism
—> Storage disease (mucopolysaccharidosis)
—> Obstructive airway disease with protruding tongue
- Management:
—> AFP + USG monitoring up to 8 yo for embryonal tumours
