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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
Q

what causes NTD

A

Folate deficiency

Chromosomal anomalies

26
Q

What are the two types of NTD at the caudal end

A
  • Spina bifida occulta

- Spina bifida cystica

27
Q

Define spina bifida occulta

A
  • Vertebrae fail to close

- Spinal cord, meninges and overlying skin remain intact

28
Q

How does spina bifida occult present clinically

A

Asymptomatic. Dimple may appear over defect - as dip in the fat

29
Q

What is spina bifida cystica

A
  • Complete failure vertebrae to fuse

- Meninges and spinal cord protrude through the gap

30
Q

How will spina bifida cystica present

A

Symptoms spinal cord dysfunction including motor and sensory loss

31
Q

What is anencephaly

A

absent skull and brain

32
Q

What is acranim

A

absent skull

33
Q

how are NTD prevented

A
  • Folic acid (400mcg) from birth until 12W
34
Q

what are 5 indications for 5mg Folic acid

A
  • Anti-epileptics
  • Diabetics
  • Child with NTD
  • Either parent with NTD
  • BMI >30
  • Coeliac disease
35
Q

If baby born with NTD, how are they managed

A
  • C-section
  • Prophylactic broad-spectrum antibiotics
  • Closure at 72h and VP shunt
36
Q

What proportion of cleft lips and cleft palates occur together

A

45%

37
Q

What proportion of patients have an isolated cleft palate

A

40%

38
Q

What proportion of patients have an isolated cleft lip

A

15%

39
Q

Define cleft lip

A

Seen as a unilateral or bilateral defect either side midline of the upper-lip

40
Q

What processes fail to fuse in cleft lip

A

Failure of frontonasal and maxillary processes to fuse

41
Q

What is a cleft palate

A

Fissure in midline palate

42
Q

What causes cleft palate

A

Failure palatine and nasal septum to fuse

43
Q

What structures fail to fuse in cleft palate

A

Palatine and nasal septum

44
Q

What 3 congenital defects are associated with cleft palate/lip

A

Edwards
Patau’s
Pierre-Robin sequence

45
Q

What is Pierre Robin Sequence

A

Cleft-palate
Micrgnathia
Posterior displacement tongue

46
Q

What else may cause cleft palate and lip

A

Maternal anti-epleptics
Alcohol
Methotrexate

47
Q

What conservative measures are indicated for cleft palate

A

Early feeding advice

Orthondontic prosthesis

48
Q

What is cheiloplasty

A

Repair cleft lip

49
Q

What is palatoplasty

A

Repair cleft palate

50
Q

What does cleft-palate increase risk of

A

Otitis media

Paediatrics (61 decks)

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