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Neville and Damm > Ch 1 - Developmental Defects 1 > Flashcards

Ch 1 - Developmental Defects 1 Flashcards

1
Q

What week is the primitive nostril developed?

A

4th week

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2
Q

What week is the upper lip developed? What structures merge to make it?

A

6-7th weeks…medial nasal processes merge with each other and then with the maxillary processs of the 1st branchial arches

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3
Q

What structures combine to form the primary palate?

A

medial nasal processes

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4
Q

The primary palate gives rise to the intermaxillary segment, which then develops into the ______, which is a triangular shaped piece of bone that includes the 4 incisor teeth.

A

premaxilla

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5
Q

How much of the hard and soft palate is a result of the “secondary plate”? What structure helped form the secondary plate?

A

90% of the hard and soft palate…the maxillary process of the 1st branchial arches

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6
Q

When do the palatal shelves start to fuse? What 2 structures do they fuse with? When is it completed?

A

8th week…primary palate and nasal septum…done by 12th week

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7
Q

Defective fusion of the ________ process with the

_______ process leads to cleft lip (CL).

A

Defective fusion of the MEDIAL NASAL process with the MAXILLARY process leads to cleft lip (CL).

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8
Q

Failure of the _________ to fuse results in cleft palate (CP).

A

palatal shelves

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9
Q

Approximately ___% of cases are CL + CP

A

45%

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10
Q

___% of cases are CP only (CPO) and ____% are isolated CL

A

30% being CP only (CPO) and 25% being isolated CL

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11
Q

Both isolated ______ and ____ + _____ are thought to be etiologically related conditions and can be considered as a group

A

cleft lip AND cleft lip + cleft palate

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12
Q

Isolated ____ appears to represent a separate

entity from CL ± CP

A

cleft palate only

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13
Q

more than ___ developmental syndromes have been identified that may be associated with CL ± CP or CPO…..___% of CL ± CP cases and ___% of CPO cases are associated with syndromes

A

400….30% of CL ± CP and 50% of CPO cases (thus CPO is more likely to be syndromic)

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14
Q

Maternal ______ consumption has been associated
with an increased risk for both syndromic and
nonsyndromic clefts.

A

EtOH

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15
Q

Maternal _______ at least doubles the frequency of cleft development

A

cigarette smoking

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16
Q

An increased frequency of cleft development has been related to ________ therapy (especially ______)
which causes a nearly TENFOLD greater risk of cleft formation

A

anticonvulsant (esp phenytoin)

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17
Q

A number of studies have suggested that ______ supplementation may play a role in prevention of orofacial clefts.

A

folic acid (B9)

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18
Q

The ________ is caused by lack of fusion of the
maxillary and mandibular processes and represents 0.3% of all facial clefts….what is the clinical outcome when the cleft extends from the commissure to the ear?

A

lateral facial cleft….macrostomia

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19
Q

What are 4 disorders associated with a lateral facial cleft?

A
  1. Mandibulofacial dysostosis 2. Oculo-auriculo-vertebral spectrum (hemifacial microsomia) 3. Nager acrofacial dysostosis 4. Amniotic rupture sequence
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20
Q

The ________ cleft extends from the upper lip to the eye. It is nearly always associated with ________, and severe forms often are incompatible with life.

A

oblique facial cleft….cleft palate

21
Q

_________ is an extremely rare anomaly that results from failure of fusion of the medial nasal processes.

A

Median cleft of the upper lip

22
Q

Median cleft of the upper lip may be associated with a number of syndromes, including which 2?

A
  1. oral-facial-digital syndromes

2. Ellis-van Creveld syndrome

23
Q

Most apparent median clefts of the upper lip actually represent agenesis of the primary palate associated with _________.

A

holoprosencephaly

24
Q

Please list the top 4 ethnicities in order of prevalence of CL+/-CP

A
  1. Native Americans (3.6 / 1000) 2. Asian (1.5 / 700-1000) 3. Whites (1 / 700-1000) 4. Blacks (0.4 / 1000)
25
Q

Which is more common CL+/-CP or CPO?

A

CL+/-CP much more common (CPO is 0.4/1000)

26
Q

(Gender) CL ± CP is more common in _____ than in ______. In fact, The more severe the defect, the greater the _____ predilection

A

CL ± CP is more common in MALES than in females. The more severe the defect, the greater the MALE predilection

27
Q

Gender predilection for CPO?

A

FEMALE (same as CL/CP, the greater the defect of CPO the more FEMALE predilection)

28
Q

Approximately 80% of cases of CL will be ______ (laterality) with 20% ________…WTF? Approximately 70% of unilateral
CLs occur on the _____ side.

A

unilateral….20% bilateral….left

29
Q

The minimal manifestation of CP is a ______. What is the prevalence of this compared to CP?

A

cleft or bifid uvula…. The prevalence of cleft uvula is MUCH HIGHER than that of CP, with a frequency of 1 in every 80 white individuals.

30
Q

What two populations have a much higer rate of bifid uvula?

A

Native Americans and Asians

31
Q

A ______ is when the surface mucosa is intact, but a defect exists in the underlying musculature of the soft palate

A

submucous palatal cleft

32
Q

Which cleft can appear as a BLUISH midline discoloration?

A

submucous palatal cleft

33
Q

What are the three components of the Pierre Robin sequence?

A
  1. “U-shaped” Cleft palate 2.mandibular micrognathia 3.glossoptosis
34
Q

What are the two most commonly associated genetic disorders with the Pierre Robin sequence?

A

1.Stickler syndrome 2. VeloCardioFacial syndrome (DeGeorges)

35
Q

What is unique about the shape of the palatal cleft in the Pierre Robin sequence?

A

its U-shaped

36
Q

In nonsyndromic cases of orofacial clefting, the risk
for cleft development in a sibling or offspring of an affected person is ___-___% if no other first-degree relatives also are affected…The risk increases to __% to ___% if other first degree relatives are affected.

A

3% to 5%….10% to 20%

37
Q

__________ are small mucosal invaginations that occur at the corners of the mouth on the vermilion border…What failed to fuse?

A

Commissural lip pits…embryonal maxillary and mandibular processes

38
Q

Commissural lip pits are more common in what age group? Gender? Suggestive inheritence pattern?

A

adults (considered congenital, but develop later in life)…MALES…AD

39
Q

While commissural lip pits are not associated with clefts, they might be associated with _______ (what other clinical finding of the face)

A

preauricular pits (aural sinuses)

40
Q

What are 2 alternate names for Paramedian Lip Pits?

A
  1. Congenital fistulas of the lower lip 2.congenital lip pits
41
Q

__________ are rare congenital invaginations of the lower lip. How do they form?

A

Paramedian lip pits…persistent lateral sulci on the embryonic mandibular arch (normally dissappear at 6 weeks of embryonic age)

42
Q

What is the term for paramedian lip pits in association with CL/CP?

A

Van der Woude Syndrome

43
Q

What is the most common form of syndromic clefting?

A

Van der Woude syndrome

44
Q

Gene mutations for Van der Woude syndrome? (chromo?)

A

IRF6 chromo 1q32-q41

45
Q

What are two other syndromes (besides Van der Woude) that feature paramedian lip pts?

A
  1. Popliteal pterygium syndrome

2. Kabuki syndrome

46
Q

Which syndrome is closely related to Van der Woude syndrome?

A

Popliteal pterygium syndrome

47
Q

What are the 5 features of poplitral pterygium syndrome?

A
  1. Paramedian lip pits
  2. pterygia (poplital webbing)
  3. CL+/-CP
  4. genital abnormalities
  5. sygnathia (congenital bands fusing upper and lower jaws)
48
Q

_______ syndrome received its name because affected patients exhibit eversion of the lower lateral eyelids

A

Kabuki

49
Q

What are the 7 characteristics of Kabuki syndrome?

A
  1. paramedian lip pits 2. intellectual disability 3. large ears 4. CL+/-CP 5. Hypodontia 6. Joint laxity 7. Skeletal abnormalities

Neville and Damm (72 decks)

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