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Paediatrics > Paediatric Childhood syndrome > Flashcards

Paediatric Childhood syndrome Flashcards

1
Q

Down’s syndrome - Pathophysiology

A
  • Trisomy 21 - extra Chromosome 21
  • Majority causes by non disjunction during maternal meiosis I
  • Leads to formation of gamete with extra Chromosome 21
  • Clinical features are caused by over-expression of genes on chromosome 21
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2
Q

Down’s syndrome - Physical clinical features

A

Face
1. Eyes
* Epicanthic folds
* Brushfield spots on iris

  1. Flat Occiput, low set ears
  2. Limbs
    * Single palmar crease
    * ’Sandal gap’ - Big - First toe
    * Hypotonia
  3. Short stature
  4. Obesity
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3
Q

Down’s syndrome - Clinical complications

A

1 . Congential heart disease : AV septum defect most common
2 . GI
*Duodenal atresia
* Hirschsprung’s disease

3 . Subfertility

4 . Recurrent Otitis media

5 .Hypothyroidism

6 .Acute lymphoblastic leukaemia

7 .Alzheimer’s disease : over expressed of APC gene due to extra chromosome 21

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4
Q

Down’s syndrome : Main risk factor

A

Advancing maternal age

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5
Q

Patau syndrome : Definition

A

** Trisomy 13 : Extra chromosome 13**

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6
Q

Patau syndrome : Clinical features

A
  1. P - Polydactyly- extra fingers or toes.
  2. A - Abnormal CNS (Central Nervous System):
    * Microcephaly
  3. T - Trisomy 13
  4. A - Abnormal facial features
    * Cleft lip and palate
  5. U - Underdeveloped eyes (Microphthalmia) - small eyes
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7
Q

Edward’s syndrome : Definition

A

Trisomy 18 : Extra chromosome 18

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8
Q

Edward’s syndrome : Clinical features

A
  1. E: eighteen (trisomy 18)
  2. D: digit-overlapping flexion
  3. W: wide head
  4. A: absent intellect (mental retardation)
  5. R: rocker-bottom feet
  6. D: diseased heart
  7. S: small lower jaw
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9
Q
  1. Fragile X syndrome : Pathophysiology
A
  1. X linked inheritance
  2. Mutation of FMR1 gene due to expansion of trinucleotide repeat sequence - causing it to be silenced
  3. More repeats, the more severe
  4. FMR gene is important for brain development
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10
Q
  1. Fragile X syndrome : Clinical features
A

‘e X tra large testes, jaws, and ears’
1. Learning difficulties
1. Macrocephaly
1. Long face
1. Large ears
1. Macro-orchidism

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11
Q
  1. Noons syndrome : Pathophysiology
A
  1. Sporadic mutation
  2. Genetic mutation in RAS-MAPK signalling pathway (regulates cell growth and differentiation) which causes dysregulation of development and organ function.
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12
Q

Noons syndrome : Clinical features

A

** The SUN BURNS at NOON!**
Short stature
Unusual facies (Ocular hypertelorism, low set ears)
Neck is webbed

Bleeding disorders
Unusual chest shape - Pectus excavatum
RAS MAPK mutation
Nose is flat
Stenosis (Pulmonic stenosis)

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13
Q

Pierre-Robin syndrome : Pathophysiology

A
  1. Position in utero : compression of lower jaw against chest during fatal development
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14
Q

Pierre-Robin syndrome : Clinical features

A
  1. Underdeveloped mandible : small jaw
    Leads to ;
    * Retracted tongue : limited space for tongue causing it to be positioned further back } Respiratory distress when supine
    * Cleft palate
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15
Q

Prader-Willi syndrome : Definition

A

** Deletion of genes on paternal Chr 15 **

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16
Q
  1. Prader-Willi syndrome : Pathophysiology
A
  • Deletion of genes on paternal Chr 15
  • These genes play role in development and function of the hypothalamus
  • Clinical features are secondary to hypothalamic dysfunction
17
Q
  1. Prader-Willi syndrome : Clinical features
A

Clinical features are secondary to hypothalamic dysfunction -> metabolic and hormonal dysregulation

  1. Hyperphagia and obesity : hypothalamus unable to regulate appetite.
  2. Short stature : Growth hormone deficiency
  3. Hypogonadism : Lack of sex hormone release
  4. Hypotonia : CNS motor development abnormality
18
Q

William’s syndrome : Definition

A
  1. **Deletion of genes on Chr 7 **
    * Elastin gene is effected : which is important for tissue development particularly the heart
19
Q

William’s syndrome - Clinical feature

A
  1. Weight (low at birth, slow to gain)
  2. Iris (stellate iris) -‘Bicycle wheel pigment’ of iris
  3. Long philtrum
  4. Large mouth
  5. Increased Ca++ } transient neonatal hypercalcaemia
  6. Aortic stenosis (Supravalvular)
  7. Mental retardation
  8. Short stature and sweet (friendly personality
  • /William has 7 letters = Chromosome 7/*
20
Q

Cri du chat syndrome : Pathophysiology

A

Partial deletion of genetic material on short arm of Chromosome 5.

The deleted genetic material played a significant role in

  1. Communication and development of vocal chords/Larynx : thus non verbal and ‘cat like cry’
  2. Cognitive and craniofacial development
21
Q

Cri du chat syndrome : Clinical features

A
  1. **C **- Cat-Like Cry
  2. R - Round Face
  3. I - Intellectual Disability
  4. D - Developmental Delays
  5. U - Unusual Facial Features
  6. C - Communication Difficulties
  7. H - Hypertelorism (Wide-Set Eyes)
  8. A - Aggression (Behavioral Challenges)
  9. T - Tiny Jaw (Micrognathia)
    1.** S** - Small Head Size (Microcephal

Paediatrics (13 decks)

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