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Paediatrics > 3: Neonatology - Dysmorphic Syndromes > Flashcards

3: Neonatology - Dysmorphic Syndromes Flashcards

1
Q

Define dysmorphic features

A

physical features, not found in someone of the same-age or ethnic background

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2
Q

What are dysmorphic facial features of Down’s syndrome

A
  • Upslanting palpebral fishes
  • Brushfield spots
  • Saddle nose
  • Round low-set ears -
  • Small mouth
  • High-arch palate
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3
Q

What are brush field spots

A

Grey discolouration of the iris

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4
Q

What cardiac defect is present in DS

A

AVSD (40%)

VSD (30%)

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5
Q

What digital defects are present in DS

A

Sandle gap

Single transverse palmar crease

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6
Q

What is a sandal gap

A

Large gap between first and second-toe

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7
Q

What are four dysmorphic features of Edward’s syndrome

A
  • Micrognathia
  • Prominent occiput
  • Rockerbottom feet
  • Low-set ears
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8
Q

What is micrognathia

A

Small jaw

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9
Q

What is micrgnathia associated with

A

Edward’s syndrome

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10
Q

What are 4 features of Patau’s

A
  • Cleft lip
  • Microcephaly
  • Holoprosencephaly
  • Micropthalmia
  • Polydactyly
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11
Q

What is the stereotypical deformity in pataus

A

Microcephaly and holoprosencephaly

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12
Q

What is prader-willi

A

15q11 deletion in males

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13
Q

What eye shape is present in prader-willi

A

Almond-shape

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14
Q

What are other features of prader-willi

A
  • Hypotonia
  • Short-stature
  • Cryptochidism
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15
Q

What is anglemann’s syndrome

A

15q11 deletion in females

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16
Q

What is a identifiable feature of anglemann’s syndrome

A

Happy demeanour with frequent laughing

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17
Q

What is william’s syndrome

A

Deletion of chromosome 7

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18
Q

what is the personality in William’s syndrome

A

Cognitive abnormalities - excessively comfortable around strangers

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19
Q

what are the dysmorphic features in Williams syndrome

A

Elfin appearance:

  • Mid-facial hypoplasia
  • Short palpable fissures
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20
Q

what is DiGeorge syndrome

A

22q11 deletion syndrome

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21
Q

what are 5 dysmorphic features of DiGeorge syndrome

A
  1. Short philtrum
  2. Fish-shaped mouth
  3. Micrgnathia
  4. Cleft palate
  5. Low set ears with notched pinna
22
Q

what condition has a fish-shaped mouth

A

DiGeorge’s syndrome

23
Q

how does foetal alcohol syndrome present

A
  • Hypoplastic upper lip
  • Smooth philtrum
  • Microcephaly
  • Cardiac defects
  • Learning difficulties
24
Q

what are NTD

A

Failure neural tube to close

25
what causes NTD
Folate deficiency | Chromosomal anomalies
26
What are the two types of NTD at the caudal end
- Spina bifida occulta | - Spina bifida cystica
27
Define spina bifida occulta
- Vertebrae fail to close | - Spinal cord, meninges and overlying skin remain intact
28
How does spina bifida occult present clinically
Asymptomatic. Dimple may appear over defect - as dip in the fat
29
What is spina bifida cystica
- Complete failure vertebrae to fuse | - Meninges and spinal cord protrude through the gap
30
How will spina bifida cystica present
Symptoms spinal cord dysfunction including motor and sensory loss
31
What is anencephaly
absent skull and brain
32
What is acranim
absent skull
33
how are NTD prevented
- Folic acid (400mcg) from birth until 12W
34
what are 5 indications for 5mg Folic acid
- Anti-epileptics - Diabetics - Child with NTD - Either parent with NTD - BMI >30 - Coeliac disease
35
If baby born with NTD, how are they managed
- C-section - Prophylactic broad-spectrum antibiotics - Closure at 72h and VP shunt
36
What proportion of cleft lips and cleft palates occur together
45%
37
What proportion of patients have an isolated cleft palate
40%
38
What proportion of patients have an isolated cleft lip
15%
39
Define cleft lip
Seen as a unilateral or bilateral defect either side midline of the upper-lip
40
What processes fail to fuse in cleft lip
Failure of frontonasal and maxillary processes to fuse
41
What is a cleft palate
Fissure in midline palate
42
What causes cleft palate
Failure palatine and nasal septum to fuse
43
What structures fail to fuse in cleft palate
Palatine and nasal septum
44
What 3 congenital defects are associated with cleft palate/lip
Edwards Patau's Pierre-Robin sequence
45
What is Pierre Robin Sequence
Cleft-palate Micrgnathia Posterior displacement tongue
46
What else may cause cleft palate and lip
Maternal anti-epleptics Alcohol Methotrexate
47
What conservative measures are indicated for cleft palate
Early feeding advice | Orthondontic prosthesis
48
What is cheiloplasty
Repair cleft lip
49
What is palatoplasty
Repair cleft palate
50
What does cleft-palate increase risk of
Otitis media

Paediatrics (61 decks)

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