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MBBS IV - Junior Clerkship WCS > JC119 (Paediatrics) - Child Growth and Development > Flashcards

JC119 (Paediatrics) - Child Growth and Development Flashcards

1
Q

Determinants of a newborn’s size

A

newborn’s size is determined by the intrauterine environment

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

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2
Q

Describe the normal growth velocity during childhood

A

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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3
Q

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

A

 171 cm for males

 158 cm for females

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4
Q

2 normal variants of short stature

A
  1. Familial short stature

2. Constitutional delay in growth and development

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5
Q

Compare constitutional delay in growth and familial short stature

A

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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6
Q

Ddx pathological causes of short stature

“endocrine PICNICS”

A

 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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7
Q

4 disease groups of pathological short stature

A

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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8
Q

2 disease groups of pathological tall stature

A

Endocrine:

  • Hyperthyroidism
  • Precocious puberty
  • Growth hormone-secreting tumors

Syndromal:

  • Klinefelter
  • Marfan
  • Soto
  • Homocystinuria
  • Beckwith-Wiedermann syndrome
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9
Q

Morphological features of Down Syndrome

A 
 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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10
Q

Turner syndrome

Morphological features
Systemic malformations

A 
 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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11
Q

Noonan syndrome

Morphological features
Systemic defects

A

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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12
Q

Silver-Russell syndrome

Morphological features and systemic defects

A

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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13
Q

Silver-Russell syndrome

Morphological features and systemic defects

A

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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14
Q

Causes of Disproportionate short stature

A

Short back and limbs, e.g.

  • Spondyloepiphyseal dysplasia
  • Mucopolysaccharidosis (MPS)

Short limbs, e.g. rhizomelic shortening

  • Achondroplasia
  • Hypochondroplasia
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15
Q

Spondyloepiphyseal dysplasia

Morphological features

A

 Short stature
 Disproportionately short trunk
 Kyphoscoliosis

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16
Q

Mucopolysaccharidosis (MPS)

  • Subtypes
  • Characteristic facies
A

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
17
Q

Mucopolysaccharidosis (MPS)

Extra-skeletal symptoms

A 
 Developmental delay
 Skin thickening

 Corneal clouding

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

 Valvular heart disease
 Hepatosplenomegaly
 Umbilical / inguinal hernia
18
Q

Mucopolysaccharidosis (MPS)

Skeletal/ joint abnormalities

A 
 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
19
Q

Achondroplasia

  • Genetic defect
  • Morphological features
A

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)
20
Q

Hypochondroplasia

Morphological features

A 
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
21
Q

Chronic diseases associated with short and thin stature

A

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

 Chronic renal failure, rickets

 Malabsorption/ chronic inflammatory bowel disease

 Psychosocial deprivation
 Anorexia nervosa

 Thalassemia

22
Q

Diseases a/w short and fat stature

A 
 Panhypopituitarism

 Isolated growth hormone deficiency
 Hypothyroidism
 Pseudohypoparathyroidism

 Cushing’s syndrome
 Prader-Willi syndrome
23
Q

Pseudohypoparathyroidism

  • Define the endocrine disorder
  • Clinical features
A

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

24
Q

Prader-Willi syndrome

Morphological features

A 
 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
25
Q

Outline history taking questions for abnormal childhood growth/ development

A

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

26
Q

Outline P/E for abnormal childhood growth/ development

A

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

27
Q

Features suggestive of pathological short stature

A

Body height <1st centile

Abnormally short for family heights

Suggestive of chronic illness

Abnormal growth velocity

Abnormal body proportions

Dysmorphic features/ midline defects

28
Q

First line investigations for abnormally short stature in a child

A

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)

29
Q

General treatment options for abnormally short stature

A

 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

30
Q

Causes of tall stature in children

A

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
31
Q

Klinefelter syndrome

  • Genetic defect
  • Clinical features
A

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
32
Q

Marfan syndrome

  • Genetic defect
  • Morphological features
A

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
33
Q

Soto syndrome

Morphological features

A

Cerebral gigantism

  • High forehead
  • Downward slanting eyes
  • Long, narrow face
  • Pointed chin

Rapid growth in early childhood

34
Q

Homocystinuria

  • Mode of inheritance
  • Morphological features
  • Systemic defects
A

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)
35
Q

Beckwith-Wiedermann syndrome

Morphological features

A

fetal overgrowth syndrome
~~~
 Macrosomia
 Macroglossia
 Hepatosplenomegaly

 Hypoglycaemia
 Risk of malignancy (especially Wilm’s tumour and hepatoblastoma)
~~~

36
Q

Investigations for pathologically tall child

A

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

MBBS IV - Junior Clerkship WCS (131 decks)

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