Chapter 1: Developmental Defects of the Oral and Maxillofacial Region

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1

Disturbances in the growth of tissue processes or their fusion may result in the formation of ___.

orofacial clefts

2

The ___ is formed by the merger of the medial nasal processes to form the intermaxillary segment.

primary palate

3

The ___, which makes up 90% of the hard and soft palates, is formed from the maxillary processes of the first branchial arches.

secondary palate

4

Defective fusion of the medial nasal process with the maxillary process leads to ___.

cleft lip (CL)

5

Failure of the palatal shelves to fuse results in ___.

cleft palate (CP)

6

Approximately ___% of orofacial clefts are CL + CP with ___% being CP only (CPO) and ___% being isolated CL.

45%: 30%: 25%

7

The ___ is caused by lack of fusion of the maxillary and mandibular processes and represents 0.3% of all facial clefts.

lateral facial cleft

8

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

oblique facial cleft

9

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

median cleft of the upper lip

10

Considerable racial variation in prevalence of orofacial clefts is seen. Rank the following from highest to lowest risk:

  1. Whites
  2. Blacks
  3. Asians
  4. Native Americans
  1. Native Americans (3.6 per 1000 births)
  2. Asians (1.5 per 1000 births)
  3. Whites (1 per 1000 births)
  4. Blacks (0.4 per 1000 births)
11

CL ± CP is more common in ___. In contrast, CPO is more common in ____.

males; females

12

Approximately ___% of cases of CL will be unilateral with ___% bilateral.

80%: 20%

13

Approximately 70% of unilateral CLs occur on the ___ side.

left

14

A ___ CL extends upward into the nostril, but an ___ CL does not involve the nose.

complete; incomplete

15

Complete clefts involving the alveolus usually occur between the ___ and ___ teeth.

lateral incisor; cuspid

16

The most minimal manifestation of CP is a ___.

bifid uvula

17

When a ___ develops, surface mucosa is intact, but a defect exists in the underlying musculature of the soft palate.

submucous palatal cleft

18

The ___ is a well-recognized presentation characterized by CP, mandibular micrognathia, and glossoptosis.

Pierre Robin sequence

19
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Infant with a defect of the upper lip.

cleft lip

20
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Palatal defect resulting in communication with the nasal cavity.

cleft palate

21
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The most minimal manifestation of cleft palate.

bifid uvula

22
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A cleft of the midline palatal bone exists, but the overlying mucosa is intact.

submucous palatal cleft

23
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Micrognathic mandible in an infant with cleft palate.

Pierre Robin sequence

24

What is the treatment for orofacial clefts?

  1. multidisciplinary approach
  2. multiple surgeries
  3. genetic counseling
25

___ are small mucosal invaginations that occur at the corners of the mouth on the vermilion border.

commissural lip pits

26
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Depression at the labial commissure.

commissural lip pit

27

What is the treatment for commissural lip pits?

no treatment is necessary

28

___ are rare congenital invaginations of the lower lip believed to arise from persistent lateral sulci on the embryonic mandibular arch.

paramedian lip pits

29

The greatest significance of paramedian lip pits is that they usually are inherited as an autosomal dominant trait in combination with CL and/or CP as part of ___.

van der Woude syndrome

30

Paramedian lip pits may be a feature of ___, characterized by popliteal webbing (pterygia), CL and/or CP, genital abnormalities, and congenital bands connecting the upper and lower jaws (syngnathia).

popliteal pterygium syndrome

31

Paramedian lip pits may be a feature of ___, characterized by eversion of the lower lateral eyelids, intellectual disability, large ears, CL and/or CP, hypodontia, joint laxity, and skeletal abnormalities.

Kabuki syndrome

32
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Bilateral pits on the lower lip in a patient with van der Woude syndrome.

paramedian lip pits

33
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A cleft in the soft palate of a patient with bilateral pits on the lower lip.

van der Woude syndrome

34

What is the treatment for paramedian lip pits?

surgical excision

35

___ is a rare oral anomaly characterized by a redundant fold of tissue on the mucosal side of the lip.

double lip

36

In a patient with double lip, the ___ lip is affected much more often than the ___ lip.

upper; lower

37

Double lip is part of the characteristic triad of ___, along with blepharochalasis and thyroid enlargement.

Ascher syndrome

38
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When the patient smiles, a redundant fold of tissue partially covers the right anterior maxillary teeth.

double lip

39
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Edema of the upper eyelids (blepharochalasis) in a patient with double lip and an enlarged thyroid.

Ascher syndrome

40

What is the treatment for double lip?

  1. no treatment (mild cases)
  2. surgical excision (severe cases)
41

___ are sebaceous glands that occur on the oral mucosa, most commonly on the buccal mucosa and vermilion of the upper lip.

fordyce granules

42

Fordyce granules are more common in ___ than in ___, probably as a result of hormonal factors, as puberty appears to stimulate their development.

adults; children

43

Because Fordyce granules have been reported in more than ___% of the population, they are considered a normal anatomic variation.

80%

44
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Yellow papules on the vermilion of the upper lip.

fordyce granules

45
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Lesions on the buccal mucosa.

fordyce granules

46
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Multiple sebaceous glands below the surface epithelium. The sebaceous cells in these lobules are polygonal in shape, containing centrally located nuclei and abundant foamy cytoplasm.

fordyce granules

47

What is the treatment for fordyce granules?

no treatment

48

___ is a common oral mucosal condition characterized by a diffuse, gray-white, milky, opalescent appearance of the mucosa.

leukoedema

49

Leukoedema occurs more commonly in ___ than in ___, supporting the likelihood of an ethnic predisposition to its development.

blacks; whites

50
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White, wrinkled appearance of the buccal mucosa. The lesions do not rub off and typically occur bilaterally.

leukoedema

51
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  1. Diffuse white appearance of the buccal mucosa.
  2. Whiteness disappears when the cheek is stretched.

leukoedema

52
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Parakeratosis and intracellular edema of the spinous layer. The rete ridges are broad and elongated.

leukoedema

53

What is the treatment for leukoedema?

no treatment

54

___ is an uncommon developmental condition of unknown cause that is characterized by an abnormally small tongue.

microglossia

55

Most reported cases of microglossia been associated with one of a group of overlapping conditions known as ___.

oromandibular-limb hypogenesis syndromes

56
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  1. Abnormally small tongue associated with constricted mandibular arch.
  2. Same patient with associated constriction of the maxillary arch.

microglossia

57

What is the treatment for microglossia?

  1. depends on severity
  2. surgery
  3. orthodontics
58

___ is an uncommon condition characterized by enlargement of the tongue, most frequently caused by vascular malformations and muscular hypertrophy.

macroglossia

59

Macroglossia is a characteristic feature of ___, a rare hereditary condition that includes many other possible defects, including omphalocele, visceromegaly, an gigantism.

Beckwith-Wiedemann syndrome

60
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Large tongue in a patient with Down syndrome. The enlarged tongue typically demonstrates a papillary, fissured surface.

macroglossia

61
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The tongue enlargement has resulted in a crenated border that corresponds to the embrasures between the teeth.

macroglossia

62

What is the treatment and prognosis for macroglossia?

  1. no treatment (mild cases)
  2. reduction glossectomy (symptomatic cases)
63

___ is a developmental anomaly of the tongue characterized by a short, thick lingual frenum resulting in limited tongue movement.

ankyloglossia ("tongue-tie")

64
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Abnormal attachment of the lingual frenum, limiting tongue mobility. It is more common in boys than in girls.

ankyloglossia

65

What is the treatment for ankyloglossia?

  1. no treatment (most cases)
  2. frenotomy (“clipping”)
  3. frenuloplasty
  4. potentially self-correcting
66

If the primitive gland does not descend normally, a ___ may be found between the foramen cecum and the epiglottis.

lingual thyroid