Developmental Flashcards

1
Q

When does development of the face begin?

A

End of 4 weeks

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2
Q

What are the five prominences that forms the face?

A

1 central frontonasal promience
2 paired maxillary prominences
2 paired mandibular prominences

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3
Q

What are the two subdivisions of the central frontonasal prominence?

A

2 medial nasal processes
2 lateral nasal processes

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4
Q

What causes cleft lip?

A

Defective fusion of median nasal processes with maxillary processes

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5
Q

What causes cleft palate?

A

Defective fusion of the palatal shelves

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6
Q

What are thought to be etiologically related conditions? What is a separate entity?

A

CL and CL+CP; CP

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7
Q

What is the most common major congenital defect in humans?

A

Orofacial clefts

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8
Q

What puts a patient at increased risk for orofacial clefts?

A

Maternal alcohol use, cigarette smoking, and anticonvulsant therapy (particularly phenytoin)

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9
Q

What are possible prevention techniques to prevent orofacial clefts?

A

Folic acid supplementation

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10
Q

Cleft Lip +/- Cleft Palate: Frequency in Population

A

Native American Population: 3.6 in 1000 births
Asian Population: 1.5x higher than white population
Black Population: 0.4 in 1000 births

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11
Q

Cleft Lip and CL+CP are more common in what sex?

A

Males

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12
Q

Where do 70% of unilateral CL occur?

A

Left side

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13
Q

Cleft Palate Only: Range in severity

A

May involve hard and soft palate or soft palate only

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14
Q

Cleft Palate Only: What is a minimal manifestation?

A

Cleft/bifid uvula

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15
Q

Cleft Palate Only: Frequency in Populations

A

1:80 white individuals
Up to 1:10 asian and native american individuals
Cleft uvula only in 1:250 Black Individuals

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16
Q

Cleft Palate Only: More common in what sex?

A

Females

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17
Q

What are four rare cleft patterns?

A

Lateral/Transverse Facial Cleft, Oblique facial cleft, median cleft of the upper lip, and submucous palatal cleft

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18
Q

Describe why a lateral/tranverse facial cleft occurs

A

Defect in fusion of maxillary and mandibular processes

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19
Q

What specific syndrome do lateral/transverse facial clefts occur with?

A

Mandibulofacial dysostosis (Treacher Collins Syndrome)

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20
Q

Oblique Facial Cleft: Describe

A

Cleft extends from upper lip to the eye

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21
Q

Oblique Facial Cleft is always associated with cleft ____

A

Cleft palate

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22
Q

What happens if an oblique facial cleft is severe?

A

Incompatible with life

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23
Q

Median Cleft of the Upper Lip: Describe what occurs

A

Defect in fusion of the medial nasal processes

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24
Q

Submucous Palatal Cleft: Describe

A

Cleft of the underlying musculature of the soft palate and often a midline palatal bone notch along posterior hard palate.

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25
Q

With a submucous palatal cleft, the overlying mucosa is _____

A

Intact

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26
Q

Submucous Palatal Cleft: Presentation

A

Bluish midline discoloration

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27
Q

How is the submucous palatal cleft identified

A

By palpation

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28
Q

What does the submucous palatal cleft often present with?

A

Cleft uvula

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29
Q

Define Association

A

A group of malformations that occur together more than would be expected by chance alone

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30
Q

Define syndrome

A

A recognizable pattern of signs or symptoms that run together

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31
Q

How does syndrome differ from association

A

Typically differs from association in that a molecular cause has been discovered

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32
Q

Define Sequence

A

A pattern of deformations and malformations which is a consequence of a single malformation.

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33
Q

Pierre Robin Sequence: Describe this sequence’s presentation with its three characteristics

A
  1. Cleft Palate
  2. Mandibular micrognathia
  3. Glossoptosis
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34
Q

How can Pierre Robin Sequence occur?

A

May occur as an associate finding or as part of a syndrome (DiGeorge Syndrome)

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35
Q

Pierre Robin Syndrome: Describe known sequence of events

A

Underdevelopment of the jaw -> Tongue displacement/failure to descend -> prevention of fusion of the palatal shelves with resultant cleft palate (or high-vaulted, U-shaped palate in mild cases)

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36
Q

Pierre Robin Sequence: Clinical Outcomes

A

-Respiratory, feeding and speech difficulty
-Malocclusion
-Possible missing teeth, supernumerary teeth

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37
Q

Other names for Deletion 22q11.2 syndrome

A

DiGeorge syndrome and velocardial facial syndrome

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38
Q

Deletion 22q11.2 Syndrome: Cause

A

Syndrome caused by deletion of a small portion of chromosome 22

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39
Q

Deletion 22q11.2 Syndrome: Clinical features

A

Heart defects
Poor immune system function
Characteristic facial features
Cleft palate
Delayed development with behavioral and emotional problems
Low calcium levels

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40
Q

Deletion 22q11.2 syndrome: Characteristic facial features

A

Underdeveloped chin, low-set ears, wide-set eyes or a narrow groove in the upper lip

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41
Q

Acronym for Deletion 22q11.2 syndrome:

A

CATCH 22:
Cardiac Defect
Abnormal facies
T-Cell deficit
Cleft Palate
Hypocalcemia

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42
Q

Mandibulofacial Dysostosis (Treacher Collins Syndrome): Etiology

A

Defects of structures derived from 1st and 2nd branchial arches

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43
Q

Mandibulofacial Dysostosis: Inheritance pattern

A

Autosomal dominant inheritance

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44
Q

Mandibulofacial Dysostosis: Clinical features tend to _____ with subsequent generations in the same family

A

Worsen

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45
Q

Mandibulofacial Dysostosis: Associated with ______ paternal age

A

Increased

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46
Q

Mandibulofacial Dysostosis: Clinical features (Characteristic facies)

A

Hypoplastic zygomas
Narrow face
Depressed cheeks
Downward slanting of palperbral fissures

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47
Q

Mandibulofacial Dysostosis: Effect on ears

A

Ear deformities and conductive hearing loss

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48
Q

Mandibulofacial Dysostosis: Effect on mandible

A

Underdeveloped causing retruded chin

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49
Q

Mandibulofacial Cleft: 15% have lateral facial clefting resulting in ___

A

Macrostomia

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50
Q

Cleft palate appears in how many mandibulofacial dysostosis patients?

A

15%

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51
Q

How are parotid glands affected in mandibulofacial dysostosis?

A

Hypoplastic or even absent parotid glands

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52
Q

Mandibulofacial Dysostosis: Radiology

A

Hypoplasia condyle and coronoid processes
Prominent antegonial notching

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53
Q

Mandibulofacial Dysostosis: Treatment

A

Depending on severity:
-If breathing is compromised patient may need trachetomy
-Orthognathic surgery
-Orthodontic treatment

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54
Q

Two types of lip pits

A

Commissural Lip Pits & Paramedian Lip Pits

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55
Q

Commissural Lip Pits: Describe

A

Small mucosal invaginations at the corners of the mouth on the vermilion border

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56
Q

Commissural Lip Pits: Population affected

A

M>F

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57
Q

Commissural Lip Pits: How far can these blind fistulas extend to?

A

Depth of 1 to 4 mm

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58
Q

What type of pits are more prevalent with commissural lip pits?

A

Preauricular pits

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59
Q

Commissural lip pits are not associated with what two conditions?

A

Facial or palatal clefts

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60
Q

Commissural Lip Pits: Tx if they get infected

A

Excision

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61
Q

Commissural Lip Pits are _____ associated with syndromes

A

NOT

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62
Q

Paramedian Lip Pits: Describe location

A

Typically bilateral and symmetrical fistulas of the lower lips

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63
Q

Paramedian Lip Pits range from

A

Subtle depressions to prominent humps

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64
Q

Paramedian Lip Pits can extend down to ____ cm

A

1.5 cm

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65
Q

What are paramedian lip pits associated with?

A

Clefting Syndromes such as Van Der Woude Syndrome, Popliteal Pterygium Syndrome and Kabuki Syndrome

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66
Q

What is the most common syndromic form of clefting?

A

Van Der Woude Syndrome

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67
Q

Double Lip Etiology

A

May be congenital or acquired

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68
Q

Double Lip Congenital Cause

A

Arises during second or third month of gestation

69
Q

Double Lip Acquired Cause

A

Component of Ascher Syndrome or a result of trauma or oral habits

70
Q

What is affected in double lip

A

Can affect either or both lips (most commonly upper lip)

71
Q

Cause of Ascher Syndrome

A

Unknown, may be inherited AD

72
Q

Onset of symptoms of Ascher Syndrome

A

Around time of puberty

73
Q

Three characteristic components of Ascher Syndrome

A

Double Lip
Blepharochalasis
Non-toxic thryoid enlargement

74
Q

What does blepharochalasis occur abruptly and spontaneously with?

A

Double Lip

75
Q

Microglossia: Define

A

Uncommon developmental condition characterized by abnormally small tongue

76
Q

Microglossia Cause

A

Unknown

77
Q

Microglossia What do most cases occur as part of?

A

Oromandibular limb hypogenesis syndrome

78
Q

Microglossia is frequently associated with

A

Hypoplasia of the mandible and possible lower incisors missing

79
Q

Macroglossia is an uncommon characterized by

A

Enlargement of the tongue

80
Q

Macrglossia is caused by

A

A wide variety of conditions both congenital malformations and acquired disease

81
Q

Lymphangioma: Define

A

Benign, hamartomatous tumorlike growths of lymphatic vessels

82
Q

Lymphatic malformations have a marked predilection for what area of the body?

A

Head and neck

83
Q

Lymphangioma: When are lesions found?

A

Half of all lesions are noted at birth, and around 90% develop by 2 years of age

84
Q

Lymphangioma: What are the three classifications

A
  1. Macrocystic (cystic hygroma) >2cm cyst like spaces
  2. Microcystic
  3. Mixed
85
Q

What do Macrocystic (cystic hygroma) present as?

A

Soft, fluctuant mass

86
Q

Lymphangioma: Describe oral lesions and where they present

A

-Most frequent in anterior 2/3 of tongue
-Usually microcystic type: pebbly surface that resembles a cluster of translucent vesicles (Frog egg or tapioca appearance)

87
Q

How is Lymphangioma diagnosed

A

Appearance is clinically diagnostic in most cases (does not require biopsy)

88
Q

How are small lesions of lymphangioma treated

A

Not treated unless esthetic concern

89
Q

How are large lesions of lymphangioma treated

A

large lesions may cause airway compromise in case of cystic hygroma -> percutaneous schlerotherapy or other surgical intervention and supportive care

90
Q

Ankyloglossia: Describe cause

A

Tissue attaching to floor of mouth during development does not properly undergo degeneration

91
Q

Ankyloglossia: Clinical Appearance

A

Short/thickened frenum resulting in limited tongue movement

92
Q

Ankyloglossia: How does this condition affect infants and adults

A

Infants: May cause difficulty nursing, failure to gain weight and thrive in infants
Adults: May cause speech difficulty in adults

93
Q

Ankyloglossia: Treatment

A

Laser or surgical incision to release tie
Typically reserved only for patients with functional complaints

94
Q

Lingual Thyroid Other Names

A

-Ectopic Thyroid
-Aberrant Thyroid Tissue

95
Q

Lingual Thyroid: Etiology

A

-Normally the thyroid descends into the neck during development -> 7th week gestation
-Site where the descending thyroid bud comes from foramen cecum (junction of the anterior 2/3 and posterior 1/3 of tongue)

96
Q

Where is 90% of ectopic thyroid tissue found?

A

Between foramen cecum and epiglottis

97
Q

How many lingual thyroids are asymptomatic thyroid remnants at the posterior dorsal tongue?

A

10 percent

98
Q

Describe Symptomatic Cases of lingual thyroid

A

4-7x more common in females.
Symptoms frequently start in puberty, pregnancy, menopause
70% of the time it is the patients only thyroid tissue
Hypothyroidism in 33% of patients

99
Q

Lingual Thyroid: How do we diagnose?

A

Avoid Biopsy in most/all cases
Scan with iodine isotopes or technetium-99m (concentrates at thyroid tissue)

100
Q

Lingual Thyroid: What can a biopsy cause?

A

Biopsy of lingual thyroid will cause significant bleeding and this tissue may be the patient’s only functioning thyroid tissue

101
Q

Treatment for Asymptomatic Lingual Thyroid

A

No treatment indicated

102
Q

Treatment for symptomatic lingual thyroid

A

Supplemental thyroid hormone may shrink it, ablative therapy, transplantation

103
Q

Malignancy develops in how many cases of lingual thyroid

A

one percent

104
Q

Describe how often lingual thyroids occur in different sexes

A

More lingual thyroids in females but less frequently malignant than in males

105
Q

Describe treatment for males with lingual thyroids

A

Some advocation for prophylactic excision of lingual thyroids in males

106
Q

Coronoid Hyperplasia: Etiology

A

Rare developmental anomaly of unknown etiology

107
Q

Coronoid Hyperplasia results in

A

Limitation of mandibular movement

108
Q

Coronoid Hyperplasia: Population affected

A

3-5x more common in males

109
Q

Coronoid Hyperplasia: Unilateral or bilateral? How is the mandible affected?

A

May be both; mandible deviates towards the affected side

110
Q

Coronoid Hyperplasia: Treatment

A

Surgical removal of elongated coronoid process/es

111
Q

Condylar Hyperplasia: Define

A

Uncommon malformation of the mandible created by excessive growth of one of the condyles

112
Q

Condylar Hyperplasia: Etiology

A

Etiology unknown

113
Q

Condylar Hyperplasia: Population affected

A

F>M 3:1

114
Q

Condylar Hyperplasia: Clinical Appearance

A

Condylar head and/or neck may show elognation
Many cases show hyperplasia of the entire ramus
Patient may show asymmetry, prognathism, crossbite, open-bite

115
Q

Unilateral cases of mandibular condylar hyperplasia shift ____ from the affected side

A

Away

116
Q

Condylar Hyperplasia: Treatment

A

Self limiting process
Surgery to correct the defect if functionally compromises patient or esthetics are of concern +/- orthodontic treatment

117
Q

Describe Condylar Hypoplasia

A

Underdevelopment of the mandibular condyle

118
Q

Etiology of condylar hypoplasia

A

Congenital or acquired

119
Q

Condylar Hypoplasia: Congenital is associate with what head and neck syndromes?

A

Mandibulofacial dysostosis, oculoauriculovertebral syndrome, hemifacial microsomia

120
Q

Acquired Condylar Hypoplasia results from:

A

Disturbances in the growth center of the developing condyle

121
Q

What are some causes for acquired condylar hypoplasia?

A

Trauma during childhood/adolescence
Infections
Radiotherapy
Degenerative arthritis

122
Q

Condylar Hypoplasia: If unilateral, the mandible will shift _____ the affected side

A

Towards

123
Q

Bifid Condyle: Etiology

A

Rare developmental anomaly resulting in doubleheaded mandibular condyle

124
Q

What heads are affected in bifid condyle
Unilateral or bilateral?

A

Usually medial and lateral heads rather than anterior and posterior heads
Unilateral

125
Q

Bifid Condyle: Symptoms & Treatment

A

Usually asymptomatic and requires no treatment

126
Q

Eagle Syndrome/Carotid Artery Syndrome: Describe

A

Elongated stylohyoid process/mineralized complex impinges on internal or external carotid arteries and sympathetic fibers causing symptoms in the patient

127
Q

Eagle Syndrome classically occurs after what procedure?

A

Tonsillectomy (or other neck trauma)

128
Q

Describe how/if carotid artery syndrome is related to eagle syndrome

A

Related to eagle syndrome but distinguished by some authors as being unrelated to tonsillectomy

129
Q

Population affected with eagle syndrome/carotid artery syndrome

A

Adults, F>M

130
Q

Symptoms of eagle syndrome/carotid artery syndrome

A

Vague facial pain exacerbated by: chewing, swallowing, turning the head, opening the mouth
Dysphagia
Dysphonia
Headache, dizziness, syncope, transient ischemic attacks

131
Q

Eagle Syndrome/Carotid Artery Syndrome: Diagnosis

A

Observed on PAN or lateral-jaw radiographs
Can be palpated in the tonsilar fossa area-> often elicits pain

132
Q

Eagle Syndrome/Carotid Artery Syndrome Treatment

A

Local injection of corticosteroids may help symptoms
Surgical excision of elongated stylohyoid process in severe cases

133
Q

List the three newborn anomalies that do not require treatment

A

Neonatal & natal teeth
Palatal cysts of the newborn
Gingival cysts of the newborn

134
Q

Define natal teeth

A

Teeth present in newborns

135
Q

Define neonatal teeth

A

Teeth arising within the first thirty days

136
Q

More neonatal/natal teeth are ____ teeth, not supernumerary teeth

A

Decidous

137
Q

85% of natal teeth are

A

Mandibular incisors

138
Q

Palatal Cysts of the newborn: Describe

A

Small superficial keratin filled cysts

139
Q

What are the two types of cysts that occur on the palate of newborns

A
  1. Epstein Pearls and bohn’s nodules
140
Q

Location of epstein pearls

A

occur along median palatal raphe

141
Q

Epstein pearls are derived from:

A

Entrapped epithelium during fusion of palatal shelves

142
Q

Bohn’s nodules location

A

Scattered over the hard palate often near soft palate junction

143
Q

Bohn’s nodules are derived from

A

Minor salivary glands

144
Q

Gingival Cysts of the newborn: Describe clinical findings and location

A

Small, superfical, keratin-filled cysts that are found on the alveolar mucosa of infants

145
Q

Gingival Cysts of the newborn: origin

A

Cysts are odontogenic origin

146
Q

Hemifacial Hyperplasia: Etiology

A

Rare developmental anomaly characterized by asymmetric overgrowth

147
Q

Hemifacial Hyperplasia may be associated with what syndromes?

A

Beckwith-widemann syndrome
Neurofibromatosis
McCune-Albright Syndrome

148
Q

Progressive hemifacial atrophy is also known as

A

Parry-Romberg Syndrome

149
Q

Describe Progressive hemifacial atrophy

A

Atrophic changes affecting one side of the face

150
Q

Many features of progressive hemifacial atrophy are similar to

A

Scleroderma

151
Q

Onset of progressive hemifacial atrophy occurs at what age?

A

First two decades of life

152
Q

Describe how progressive hemifacial atrophy begins to look clinically and how it progresses

A

Begins as atrophy of the skin and subcutaneous structures in a localized area of the face-> spreads at variable rate -> follows a dermatome or branches of trigeminal nerve

153
Q

Progressive hemifacial atrophy population

A

Female>Male

154
Q

Clinical Features of Progressive Hemifacial Atrophy

A

-Overlying skin has dark pigmentation
-Linear scleroderma
-Ocular involvement ->enophthalmos
-Local alopecia
-May develop: trigeminal neuralgia, facial parasthesia, migraine, epilepsy

155
Q

Segmental Odontomaxillary Dysplasia: Describe

A

Recently recognized developmental disorder that affects the jaws and sometimes the overlying facial tissues

156
Q

Cause of segmental odontomaxillary dysplasia

A

Unknown

157
Q

What is clinically frequently mistaken for craniofacial fibrous dysplasia or hemifacial hyperplasia?

A

Segmental Odontomaxillary dysplasia

158
Q

Characteristics of Segmental Odontomaxillary Dysplasia

A

Painless, unilateral enlargement of the maxillary bone, fibrous hyperplasia of overlying gingival soft tissue

159
Q

What teeth are missing with segmental odontomaxillary dysplasia

A

One or both developing maxillary premolars are frequently missing

160
Q

Radiographic Appearance of Segmental Odontomaxillary Dysplasia

A

Thickened trabeculae that are vertically oriented
Radiopaque granular appearance to the bone

161
Q

Treatment for segmental odontomaxillary dysplasia

A

Usually stabilizes and may not need any treatment, can recontour the are if necessary

162
Q

Regional Odontodysplasia Cause/Etiology

A

Localized non-hereditary developmental abnormality

163
Q

Proposed etiologies for regional odontodysplasia

A

Viral infection, abnormal migration of neural crest cells, trauma/infection, circulatory defect, malnutrition

164
Q

What dentition can regional odontodysplasia occur in?

A

Primary or permanent

165
Q

Regional Odontodysplasia Population affected

A

Slight female predominance

166
Q

Jaw and teeth affected more often by regional odontodysplasia

A

Maxillary > Mandibular; predilection for anterior teeth

167
Q

What happens to the soft tissue of the overlying affected teeth in regional odontodysplasia?

A

Hyperplasia

168
Q

What happens to affected teeth in regional odontodysplasia?

A

Fail to erupt if teeth erupt appear small, irregular, yellow-brown, rough surfaced

169
Q

Treatment for Regional Odontodysplasia

A

-Unerupted teeth should be left until skeletal growth is complete
-Erupted teeth should be covered but not prepped (easy pulp exposure)