JC119 (Paediatrics) - Child Growth and Development Flashcards by Max Kam

Determinants of a newborn’s size

newborn’s size is determined by the intrauterine environment

 Maternal size
 Nutrition
 General health
 Social habits (e.g. smoking status)

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Describe the normal growth velocity during childhood

Growth velocity: Greatest in late foetal life

Continually decreases until oestrogen-mediated epiphyseal fusion
occurs in adolescence (except pubertal growth spurt)

Difference between female and male:
Male: later pubertal growth spurt, higher velocity

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Define the normal 50th centile height for male and female in HK

 171 cm for males

 158 cm for females

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2 normal variants of short stature

Familial short stature

2. Constitutional delay in growth and development

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Compare constitutional delay in growth and familial short stature

Familial short stature:

Mid-parental height = short
Bone age = Normal
Growth rate = Normal
Height prognosis = poor

Constitutional delay:

Mid parental height - normal
Bone age = delayed
Growth rate = slow
Heigh prognosis = Good

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Ddx pathological causes of short stature

“endocrine PICNICS”

 Endocrine – hypothyroidism, growth hormone deficiency, Cushing syndrome

 Psychological – deprivation
 Iatrogenic – glucocorticoid usage, spinal radiation
 Chronic illness
 Nutritional
 IUGR (born small for gestational age): Unknown aetiology; or Part of a syndrome (e.g. Russell-Silver syndrome)
 Chromosomal – Down syndrome, Turner syndrome, Noonan syndrome, Prader-Willi syndrome
 Skeletal dysplasia – achondroplasia, hypochondroplasia

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4 disease groups of pathological short stature

I. Dysmorphism with a recognizable syndrome
- Down, Turner, Noonan, Silver-Russel

II. Disproportionate short stature

Short back and limbs: Spondyloepiphyseal dysplasia, Mucopolysaccharidosis (MPS)
Short limb/ rhizomelic shortening: Achondroplasia, Hypochondroplasia

III. Short but thin (associated chronic illness) e.g. chronic renal failure, thalassemia, cystic fibrosis…etc

IV. Short and fat (endocrine cause) e.g. Cushing’s, panhypopituitarism, hypothyroidism…etc

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2 disease groups of pathological tall stature

Endocrine:

Hyperthyroidism
Precocious puberty
Growth hormone-secreting tumors

Syndromal:

Klinefelter
Marfan
Soto
Homocystinuria
Beckwith-Wiedermann syndrome

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Morphological features of Down Syndrome

 Flat facial profile
 Flat occiput
 Epicanthic fold
 Upward- slanting eyes
 Flat nasal bridge
 Protruding tongue
 Simian crease
 Gap between 1st and 2nd toes
 Developmental delay
 Hypotonia

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Turner syndrome

Morphological features
Systemic malformations

 Short stature
 Low set ears
 Narrow, high arched palate
 Low hairline
 Webbed neck
 Broad chest with widely spaced nipples
 Cubitus valgus (high carrying angle)
 Left-sided cardiac defects(coarctation of aorta, bicuspid aortic valve)
 Horseshoe kidney
 Streak ovaries, amenorrhea, infertility
 Hypothyroidism

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Noonan syndrome

Morphological features
Systemic defects

Morphological:
 Short stature
 Atypical facial appearance:
- Hypertelorism (large distance between orbits)
- Downward- slanting eyes
- Low set, abnormally shaped or posteriorly rotated ears
 Broad or webbed neck
 Unusual chest shape – sunken/ protruding

Systemic:
 Vision problems
 Hearing loss
 Abnormal bleeding/ bruising
 Heart defects – hypertrophic obstructive cardiomyopathy, ASD, VSD, pulmonary stenosis
 Mild developmental delay/ intellectual disability

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Silver-Russell syndrome

Morphological features and systemic defects

Major criteria:
 IUGR (small for gestational age)/ low birth weight (< -2 SD)
 Short stature (< -2 SD)
 Typical facies (triangular face, broad forehead, pointed chin)

Minor criteria:
 Disproportionately small body (relative macrocephaly)
 Clinodactyly (curvature) of the 5th finger
 Hypospadias
 Cryptorchidism
 Hypoglycaemia in infancy and early childhood (2-3 years)

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Silver-Russell syndrome

Morphological features and systemic defects

Major criteria:
 IUGR (small for gestational age)/ low birth weight (< -2 SD)
 Short stature (< -2 SD)
 Typical facies (triangular face, broad forehead, pointed chin)

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Causes of Disproportionate short stature

Short back and limbs, e.g.

Spondyloepiphyseal dysplasia
Mucopolysaccharidosis (MPS)

Short limbs, e.g. rhizomelic shortening

Achondroplasia
Hypochondroplasia

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Spondyloepiphyseal dysplasia

Morphological features

 Short stature
 Disproportionately short trunk
 Kyphoscoliosis

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Mucopolysaccharidosis (MPS)

Subtypes
Characteristic facies

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Subtypes:
 MPS IVA (Morquio A syndrome)
 MPS VI (Maroteaux-Lamy syndrome)
progressive multisystemic disorder

Coarse facial features:
 Broad nose
 Flat nasal bridge
 Prominent eyes
 Enlarged tongue and lips
 Macrocephaly
 Prominent forehead
 Coarse hair

Mucopolysaccharidosis (MPS)

Extra-skeletal symptoms

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 Developmental delay
 Skin thickening

 Corneal clouding

 Chronic rhinitis/ otitis media
 Hearing loss
 Obstructive airway disease

 Valvular heart disease
 Hepatosplenomegaly
 Umbilical / inguinal hernia

Mucopolysaccharidosis (MPS)

Skeletal/ joint abnormalities

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 Multiple joint pain
 Evolving joint contracture without signs of inflammation
 Idiopathic carpel tunnel syndrome
 Cervical spine stenosis and/or cord compression
 Pectus carinatum
 Kyphosis/ scoliosis
 Bilateral hip dysplasia
 Genu valgum
 Waddling gait/ reduced mobility
 Short stature of unknown reason

Achondroplasia

Genetic defect
Morphological features

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Autosomal dominant – FGFR3 mutation

Morphological features: 
 Short stature at birth
 Rhizomelic shortening (arms, legs)
 Head disproportionately large
 Trident hand with brachydactyly
 Short digits + wide hands
 Thoracolumbar kyphosis (gibbus)

Hypochondroplasia

Morphological features

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Short limbs, e.g. rhizomelic shortening
 Short-limbed short stature
 Considerable shortening of upper and lower limbs
 Marked bowing of legs
 Normal head size and facial features
 Trident hand

Chronic diseases associated with short and thin stature

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 Cardiovascular disease
 Respiratory disease (cystic fibrosis particularly Caucasians)

 Chronic renal failure, rickets

 Malabsorption/ chronic inflammatory bowel disease

 Psychosocial deprivation
 Anorexia nervosa

 Thalassemia

Diseases a/w short and fat stature

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 Panhypopituitarism

 Isolated growth hormone deficiency
 Hypothyroidism
 Pseudohypoparathyroidism

 Cushing’s syndrome
 Prader-Willi syndrome

Pseudohypoparathyroidism

Define the endocrine disorder
Clinical features

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Associated with target organ resistance to PTH :
 Low serum Ca, high PO4
 PTH appropriately high due to low serum Ca

Clinical features:
 Short 4th and 5th metacarpals (bone resorption)
 Carpopedal spasms (due to hypocalcemia)

 Short stature
 Obesity

 Developmental delay
 Calcification of basal ganglia in deep white matter of brain

Prader-Willi syndrome

Morphological features

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 Short stature

 Long and narrow head at birth; narrow face
 almond-shaped eyes 
 Small upturned nose
 Small mouth – corners curved downward
 Thin upper lip

 Small hands and feet

Outline history taking questions for abnormal childhood growth/ development

History: Birth: a) Maternal pregnancy history b) Birth and perinatal history Change in size: c) Birth weight/ length d) Catch-up or catch-down growth after birth (onset, duration) e) Pre-pubertal and pubertal growth velocity (serial height measurements documented over time on a growth chart) Ddx cause: f) Nutritional history g) Family heights and maturational history/ Family history of delayed growth and pubertal development: Mother: age of menarche; Father growth spurt h) Systems review for chronic illness i) Psychosocial history

Outline P/E for abnormal childhood growth/ development

a) Body height, body weight, head circumference (Body height <1st centile) b) Body proportions: arm span, upper segment to lower segment ratio c) Dysmorphism/ syndromal features d) Dentition and other midline defects (pituitary gland) e) Visual fields and fundoscopic examination f) Thyroid assessment g) Specific systems (as indicated) suggestive of chronic illness

Features suggestive of pathological short stature

Body height <1st centile Abnormally short for family heights Suggestive of chronic illness Abnormal growth velocity Abnormal body proportions Dysmorphic features/ midline defects

First line investigations for abnormally short stature in a child

a) CBP, ESR, L/RFT, electrolytes b) Hormone: thyroid function, IGF-1, 24h urinary cortisol c) Bone age (X-ray of left hand) d) Karyotype (e.g. Complete/ partial absence of one X chromosome = features of Turner syndrome) e) Provocative growth hormone testing: Glucagon stimulation test/ clonidine (low BP stimulates pituitary to secrete GH)

General treatment options for abnormally short stature

 Tx underlying aetiology  If non-pathological cause: **Explanation and reassurance** Explore **wellbeing issues** around school, sport and family  If suspect pathological cause: **refer to paediatric endocrinologist**

Causes of tall stature in children

Vast majority = familial tall stature ‘cross centiles’ pathological causes: - Endocrine diseases: Hyperthyroidism, Precocious puberty, Growth hormone-secreting tumors - Syndromal causes: Klinefelter syndrome, Marfan syndrome. Soto syndrome, Homocystinuria, Beckwith-Wiedermann syndrome

Klinefelter syndrome - Genetic defect - Clinical features

47, XXY males ``` Features  Tall stature Feminine features:  Eunuchoid body habitus(indeterminate sexual characteristic)  Poor Musculature  Sparse body/ facial hair  Small testes  Aggressive impulsive personality ```

Marfan syndrome - Genetic defect - Morphological features

Genetic:  Defect in the fibrillin gene (autosomal dominant)  Patients with multiple endocrine neoplasia (MEN) type IIB have a similar phenotype ``` Morphological features:  Hyperextensibility  Arachnodactyly (abnormally long and slender)  Kyphoscoliosis  Aortic root problems  Lens dislocation  High arch palate ```

Soto syndrome Morphological features

 **Cerebral gigantism** - High forehead - Downward slanting eyes - Long, narrow face - Pointed chin  **Rapid growth in early childhood**

Homocystinuria - Mode of inheritance - Morphological features - Systemic defects

Inheritance: Autosomal recessive Morphological: very similar to marfan - Hyperextensibility - Arachnodactyly - Kyphoscoliosis - High arch palate - Long arms and legs - Lens dislocation Systemic: - Poor bone density/ osteoporosis - High tendency to thrombosis (more predisposed to stroke)

Beckwith-Wiedermann syndrome Morphological features

**fetal overgrowth syndrome** ```  Macrosomia  Macroglossia  Hepatosplenomegaly  Hypoglycaemia  Risk of malignancy (especially Wilm’s tumour and hepatoblastoma) ```

Investigations for pathologically tall child

Evaluation:  **Serial height measurements**  Plot against parental heights to compare genetic potential ``` Investigation:  Hormone profile: TFT, IGF-1, Ix precocious puberty (e.g. Gonadotrophins, Sex hormones, 117OHP, DHEA....)  Karyotype (e.g. Klinefelter 46XXY)  Bone age by limb X-ray (e.g. familial tall stature, precocious puberty): - Demonstrate advancement in development - Predict final height ```

JC119 (Paediatrics) - Child Growth and Development Flashcards

(36 cards)