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Spring 18 Pedo > Congenital Genetic Disorders > Flashcards

Congenital Genetic Disorders Flashcards

1
Q

Set of medical signs and symptoms that are correlated with each other.

A

Syndrome

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2
Q

Many syndromes are autosomal dominant or recessive?

A

Dominant

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3
Q

Second most common congenital physical birth defect (approx 1 in 800 births).

A

Cleft lip and palate

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4
Q

Chances of cleft palate in Asians

A

2 in 1000

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5
Q

Chances of cleft palate in Caucasians

A

1 in 1000

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6
Q

Chances of cleft palate in Blacks

A

0.5 in 1000

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7
Q

This is more commonly associated with syndromes.

A

Isolated cleft palate

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8
Q

Sex predilection of cleft lip and palate.

A

Males > F

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9
Q

Sex predilection of cleft palate ONLY.

A

F > M

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10
Q

One child with cleft palate = ____% chance another child will have it.

A

4

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11
Q

Two children with cleft palate = ____% chance another child will have it.

A

9

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12
Q

Mother and child with cleft palate = ____% chance another child will have it.

A

15

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13
Q

When does lip and palate development occur in utero?

A

4-8 weeks

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14
Q

What gives rise to the medial and lateral nasal prominences?

A

Frontonasal prominence

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15
Q

These form from neural crest cells migrating from the first pharyngeal arch.

A

Maxillary (2) and Mandibular (2) prominences

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16
Q

Houses the incisors in a developing fetus.

A

Premaxilla

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17
Q

Anterior to the incisive foramen

A

Premaxilla/Primary palate

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18
Q

Premaxilla AKA

A

Primary palate

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19
Q

What weeks does the secondary palate form?

A

6-12

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20
Q

When the maxillary prominence and medial nasal prominence don’t fuse.

A

Cleft lip

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21
Q

When the lateral palatine processes don’t fuse.

A

Cleft palate

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22
Q

When the medial and lateral palatine processes don’t fuse.

A

Cleft alveolus

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23
Q

What class (Veau)?

Unilateral notching of the vermillion not extending into the lip.

A

1

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24
Q

What class (Veau)?

Extending into the lip, but not the floor of the nose.

A

2

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25
Q

What class (Veau)?

Goes through the floor of the nose.

A

3

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26
Q

What class (Veau)?

Any bilateral clefting.

A

4

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27
Q

What class (Veau)?

Only soft palate involvement.

A

1

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28
Q

What class (Veau)?

Soft and hard palate involvement.

A

2

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29
Q

What class (Veau)?

Class 2 + unilateral alveolar process involvement.

A

3

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30
Q

Bilateral alveolar process involvement.

A

4

31
Q

What age is the primary lip repaired?

A

0-6 months

32
Q

When is the primary palate repaired?

A

12-18 months

33
Q
  • Est. a dental home.
  • Routine prophy and exam.
  • Speech surgery?
  • Secondary lip/nose/scar revision surgery?
A

18 months - 6 years

34
Q

Premature closing of one or more cranial sutures.

A

Craniosynostosis

35
Q

Sagittal suture premature closing.

A

Scaphocephaly

36
Q

Premature fusing of the metopic (median frontal) suture.

A

Trigonocephaly

37
Q

When the coronal or lamboid sutures fuse.

A

Plagiocephaly

38
Q

Both sides of the coronal sutures fuse.

A

Brachycephaly

39
Q

Asymmetrical head shape due to external factors (cranial sutures are normal).

A

Deformational plagiocephaly.

40
Q

Tx for deformational plagiocephaly

A

Helmet molding.

41
Q

Most common syndrome associated with craniosynostosis.

A

Crouzon Syndrome

42
Q

What percent of craniosynostoses are Crouzon Syndrome?

A

4.5%

43
Q

Cloverleaf skull/Kleeblattschadel is associated with what syndrome?

A

Crouzon’s

44
Q

Mental deficiency common or rare with Crouzon ?

A

Rare

45
Q

Associated with that Syndrome?

Maxillary hypoplasia
Narrow palate
Class III malocclusion

A

Crouzon

46
Q

Genes associated with Crouzon’s that play a role in bone growth, especially during embryonic development.

A

FGFR2/3

47
Q

Genes associated with Apert Syndrome that play a role in bone growth, especially during embryonic development

A

FGFR2

48
Q

Cephaly associated with Apert Syndrome.

A

Acrobrachycepahy (Tower skull).

49
Q

Premature closing of the coronal suture.

A

Acrobrachycephaly

50
Q

Syndactyly with Apert involves which digits?

A

2,3,4

51
Q

Mental diability common or uncommon with Apert?

A

Common

52
Q

Abnormally increased distance between two organs.

A

Hypertelorism.

53
Q

Which Syndrome is this?

Hypertelorism
Proptosis
Down-slanting palpebral fissures
-Cleft palate common

A

Apert

54
Q

Which syndrome?

  • Class 3 malocclusion
  • Anterior open bite
  • V shaped maxilla
  • Delayed dental eruption
  • Crowding
A

Apert syndrome

55
Q

Mandibulofacial dysostosis AKA

A

Treacher Collins Syndrome

56
Q

Notch on the outer portion of the lower eyelid.

A

Coloboma

57
Q

Which syndrome?

  • Hypolastic zygoma and mandible.
  • Coloboma
  • Ear anomalies/hearing loss
  • Mandible hypoplasia
  • Cleft palate common
  • Infants may expereince respiratory/feeding difficulties due to airway hypoplasia
A

Mandibulofacial dysostosis/Treacher Collin’s Syndrome

58
Q

Cleft palate is common in these syndromes/diseasea.

A

Apert’s
Treacher Collins
Pierre Robin Sequence
DiGeorge Syndrome

59
Q

This syndrome has defects of structures that derive from the first and second pharyngeal arch.

A

Treacher Collins/Mandibulofacial Dysostosis

60
Q

Second most common facial birth defect.

A

Craniofacial (hemifacial) microsomia

61
Q

Which syndrome?

  • 1st/2nd pharyngeal arches.
  • Assymmetrical presentation
  • Usually spontaneous mutation
  • Hearing loss common
  • OMENS classifications:
Orbit
Mandible
Ear
Nerve
Soft tissue
A

Craniofacial/Hemifacial Microsomia

62
Q

Theory of craniofacial/hemifacial microsomia.

A

Vascular deficiency leads to poor formation of the fetal face.

63
Q
  • Micrognathia
  • Cleft palate
  • Glossoptosis
A

Pierre Robin Sequence

64
Q

Pierre Robin is NOT a syndrome!

A

True

65
Q

The primary pathogenic event in Pierre Robin sequence.

A

Absent or delay in lowering of the embryonic tongue.

66
Q

-Respiratory difficulties at birth and may have congenital heart disease.

A

Pierre Robin sequence

67
Q

Tx for Pierre Robin sequence.

A

Mandibular distraction or advancement.

68
Q
  • Large head
  • Frontal/Parietal bossing
  • Small face (hypoplastic maxilla and zygoma).
  • Hypertelorism, broad nose
  • Short stature
  • Multiple unerupted and supernumerary teeth.
A

Cleidocranial Dysplasia

69
Q

Syndrome with multiple unerupted and supernumerary teeth.

  • Distorted crown/root shapes.
  • Lack cementum.
A

Cleidocranial Dysplasia

70
Q

-Muscles on half the face atrophy.

A

Parry Romberg/Progressive Hemifacial Atrophy

71
Q
  • Unknown cause (maybe autoimmune).
  • Onset age 5-15.
  • Progresses for 2-10 years, then stabilizes.
  • Seizures
  • Skin pigmentation
  • Vitiligo
  • Eye problems
  • Trigeminal neuralgia
  • No know tx
A

Parry Romberg/Progressive Hemifacial Atrophy

72
Q

Most common syndrome associated with cleft palate.

A

DiGeorge/Velo-Cardio- Facial/ 22q11.2 deletion syndrome.

73
Q
  • Long face
  • Underdeveloped lower jaw
  • Hearing loss
  • Heart abnormalities
  • Learning disabilities
  • Thymic hypoplasia
A

DiGeorge/Velo-Cardio- Facial/ 22q11.2 deletion syndrome.

74
Q

Which syndrome is this?

  • Hypoplastic zygoma
  • Coloboma
  • Mandibular hypoplasia
  • Cleft palate commcon
A

Treacher Collins Syndrome or Mandibulofacial Dysostosis

Spring 18 Pedo (11 decks)

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