Chapter 1: Developmental Defects Flashcards
1
Q
upper lip formation occurs at weeks ___
A
6-7
2
Q
upper lip formation involves the merging of what processes?
A
medial nasal processes merge with each other as well as the maxillary processes of the first branchial arches
3
Q
when does central face development begin?
A
at week 4
4
Q
medial and lateral ___ develop from the proliferation of ___ on both sides of each nasal placode
A
- nasal processes
- ectomesenchyme
5
Q
the primary palate consists of a merger of what?
A
medial nasal process
6
Q
the secondary palate is formed from the ___ on the ___
A
- maxillary processes
- first branchial arches
7
Q
the ___ palate makes up 90% of the hard and soft palates
A
secondary
8
Q
a cleft lip is the defective fusion of the ___ process with the ___ process
A
medial nasal process with the maxillary process
9
Q
most (80%) of cleft lip cases are bilateral or unilateral?
A
unilateral
10
Q
when can you treat for cleft lip?
A
- rule of 10 - 10 weeks, 10 lbs, 10 gm %hemoglobin
11
Q
cleft palate is a result of the failure of what to fuse?
A
the palatal shelves
12
Q
the minimal manifestation of cleft palate is ___
A
bifid uvula
13
Q
about what patient age is treatment of celft palate usually performed?
A
1.5yrs
14
Q
what are the relative prevalences of developmental cases that are CP only, CL only, or CL + CP?
A
- CL + CP - 45% (most common developmental case)
- 30% CP only
- 25% CL only
15
Q
what are the relative prevalences of syndromic clefting?
A
- 30% of patients with CL + CP
- 50% of patients with syndromic cleft palate only (CPO)
16
Q
what is pierre robin sequence?
A
- CP
- mandibular micrognathia
- glossoptosis (downward displacement)
17
Q
what are environmental factors responsible for nonsyndromic clefting?
A
- maternal alcohol or cigarette use
- folic acid deficiency
- corticosteroid use
- anticonvulsant therapy
18
Q
what is the likelihood that a person affected with nonsyndromic clefting will have offspring or siblings who are also affected?
A
5%
19
Q
the lateral facial cleft results from the lack of fusion of the ___ and ___ processes. it accounts for ___% of all facial celfts
A
- maxillary and mandibular processes
- <0.5%
20
Q
an oblique facial cleft results from the failure of fusion of the ___ with the ___; it extends from the ___ to the ___, and is almost always associated with ___
A
- lateral nasal processes with the maxillary process
- upper lip to the eye
- CP
21
Q
a median cleft of the upper lip results from the failure of fusion of the ___ processes; is it common or rare?
A
- medial nasal processes
- it is very rare
22
Q
___ are one of the most common major congenital defects
A
orofacial celfts
23
Q
what is the prevalence of orofacial clefts among asians, native americans, african americans, and caucasians?
A
- native americans
- asians
- caucasians
- african americans
24
Q
is CL + CP more common in males or females?
A
males
the more severe the defect, the greater the male predilection
25
is CPO (cleft palate only) more common in males or females?
females
the more severe the defect, the greater the female predilection
26
what is a submucous palatal cleft?
* appears as a bluish midline discoloration
* surface is intact, but defect exists in the underlying musculature of the soft palate
* a bone notch will be present on the posterior hard palate margin
27
\_\_\_ are mucosal invaginations that occur at the corners of the mouth on the vermillion border
commissural lip pits
28
are commissural lip pits associated with facial or palatal clefts? what is the treatment?
neither, and no treatment is required
29
\_\_\_ are congenital invaginations of the lower lip
paramedian lip pits
30
are paramedian lip pits usually unilaterally or bilaterally located? what is the treatment?
* bilaterally located
* no treatment except evaluate for syndrome (or for esthetics)
31
\_\_\_ syndrome is the greatest significance of paramedian lip pits
van der Woude syndrome
32
describe van der Woude syndrome
* autosomal dominant
* CL + CP
* paramedian lip pits
* most common form of syndromic clefting (2% of all CL + CP)
33
what is a double lip?
redundant fold of tissue on mucosal side of lip
34
what does a double lip result from?
congenital or acquired (trauma or oral habits)
35
is a double lip more common on the upper or lower lip?
upper \> lower
36
a double lip is only noticeable when the patient does what?
tenses lip (smile)
37
what is the treatment for a double lip?
no treatment except for esthetics
38
what is ascher syndrome?
* double lip (usually acquired)
* blepharochalasis (eyelid edema)
* nontoxic thyroid enlargement
39
fordyce granules are ___ sebaceous glands
ectopic
40
fordyce granules are present in \_\_\_% of the population
80% (this is actually a variation of normal)
41
fordyce granules clinically appear as \_\_\_
yellow or yellow-white papular lesions
42
what are the most common locations of fordyce granules?
buccal mucosa and lateral portion of vermillion of uper lip
43
are fordyce granules more common in adults or children?
adults; puberty appears to stimulate development
44
what is the treatment for fordyce granules?
no treatment required
45
leukoedema affects up to \_\_\_% of african american adults and \_\_\_% of african american children
90% and 50%
46
why is leukoedema more prevalent in the african american population?
likely because background mucosal pigmentation in african americans makes the edematous changes more noticeable
47
is leukoedema a variation of normal?
yes
48
what does leukoedema look like clinically?
* typically appears as diffuse, gray-white, milky, opalescent lesions found bilaterally on buccal mucosa
* does not rub off
* white appearance disappears when cheek is stretched = clinical diagnosis
49
what is the treatment for leukoedema?
no treatment
50
\_\_\_ is the term for an abnormally small tongue
microglossia
51
is microglossia syndromic or nonsyndromic?
usually syndromic
52
syndromic microglossia usually has what associated limb features?
* hypodactylia (absence of digits)
* hypomelia (hypoplasia of part of all of a limb)
* rarely, the entire tongue may be missing
53
what is the term for a missing tongue?
aglossia
54
aglossia is frequently associated with \_\_\_, and ___ may be missing
* hypoplasia of the mandible (micrognathia)
* lower incisors may be missing
55
what is the treatment of aglossia?
depends on nature and severity of condition
56
what is the term for an abnormally large tongue?
macroglossia
57
macroglossia is most frequently caused by what?
* vascular malformations
* muscular hypertrophy
* other etiologies - lymphangioma, down syndrome, amyloidosis, angioedema, tumors
58
macroglossia is most common in what population?
children
59
what condition may be manifested by noisy breathing, drooling, and difficulty in eating or speaking?
macroglossia
60
severe cases of macroglossia can cause \_\_\_
airway obstruction
61
what is beckwith-wiedmann syndrome?
* macroglossia is a characteristic of the syndrome
* patients have increased risk for several childhood tumors
* most cases are sporadic
62
what is the treatment for macroglossia?
depends on cause and severity of condition
63
what is described as a developmental tongue abnormality characterized by a short, thick lingual frenum resulting in limitation of tongue movement?
ankyloglossia (aka tongue-tied)
64
akyloglossia is seen in up to \_\_\_% of neonates
4%
65
what is the male:female ratio of the prevalence of ankyloglossia?
4:1
M:F
in other words, it is 4x more common in males than females
66
\_\_\_ may cause problems with speech and breastfeeding
ankyloglossia
67
what is the treatment for ankyloglossia?
* no treatment required if asymptomatic; condition could be self-correcting
* frenectomy or frenuloplasty otherwise - wait until age 4-5
68
describe a lingual thyroid
* thyroid gland begins as an epithelial proliferation in the floor of the pharyngeal gut during week 3-4 of embryogenesis
* during week 7, the thyroid bud normally descends into the neck - located at the junction of the anterior 2/3 and posterior 1/3 of the tongue in midline
* if primitive gland doesn't descend normally, ectopic thyroid can be found between the foramen cecum and the epiglottis - 90% of ectopic thyroids are found here
69
lingual thyroids are more common in males or females?
up to 7x more common in females
70
in \_\_\_% of cases, lingual thyroids are the patients only thyroid tissue
70%
71
what are the symptoms of lingual thyroid?
* arise during puberty, adolescence, pregnancy, or menopause
* dysphagia, dysphonia, dyspnea
* presents as a nodule on posterior tongue at the midline
72
1/3 of patients with lingual thyroid have \_\_\_
* hypothyroidism
* lingual thyroid enlargement may be secondary to compensate for thyroid hypofunction
73
how is a lingual thyroid diagnosed?
thyroid scan (using iodine isotopes or technetium-99m), CT, and/or MRI
74
why is a biopsy not indicated to diagnose a lingual thyroid?
risk of hemorrhage and may be patients only functioning thyroid tissue
75
describe a fissured tongue
* aka scrotal tongue
* tongue exhibits multiple grooves/furrows on dorsal tongue
76
what is the prevalence of fissured tongue in children and adults?
up to 5% of children and 30% of adults
77
grooves in a fissured tongue can measure from \_\_\_-\_\_\_ in depth
2-6mm
78
what is the cause of fissured tongue?
unknown cause
79
is fissured tongue usually symptomatic?
no, it is usually asymptomatic, but there can be possible mild burning
80
fissured tongue has a strong association with \_\_\_
geographic tongue
81
fissured tongue is a component of ___ syndrome
melkersson-rosenthal
82
what is the treatment for fissured tongue?
no treatment except to brush the tongue
83
benign migratory glossitis and erythema migrans are other terms for \_\_\_
geographic tongue
84
is geographic tongue developmental?
no
85
geographic tongue is a common ___ condition
inflammatory
86
what is the female:male ratio of the prevalence of geographic tongue?
2: 1
female: male
87
what is the common location of geographic tongue?
dorsal and/or lateral tongue
88
is geographic tongue usually symptomatic?
no, it is usually asymptomatic, but may burn or hurt
89
what is hairy tongue characterized by?
marked accumulation of keratin on the filiform papilla of the dorsal tongue
90
what is the etiology of hairy tongue?
* unknown etiology; many patients are heavy smokers
* could also be due to poor oral hygiene, antibiotics, or radiation therapy
91
hairy tongue is usually asymptomatic, but what are some possible symptoms?
* gagging sensation
* bad taste
* halitosis
* esthetics
92
what is coated tongue?
* some patients with hairy tongue have a white dorsal tongue without hairlike filiform projections
* due to bacterial and desquamated epithelial cells
93
hairy tongue may cause \_\_\_
halitosis
94
what is the treatment for hairy tongue?
tongue brushing/scraping with OHI is adequate treatment
95
what are varicosities?
superficial dilated veins
96
varicosities are rare in ___ and more common in \_\_\_
children, adults
97
varicosities are not associated with ___ or \_\_\_
hypertension or cardiopulmonary disease
98
what is the most common type of oral varicosity?
sublingual varix
99
varicosities affect how many patients over the age of 60?
2/3
100
how do varicosities most commonly appear?
multiple, blue-purple, elevated or papular nodules on ventral and lateral tongue
101
are varicosities usually symptomatic?
no
102
varicosities commonly occur on the ventral and lateral tongue, but can occur on \_\_\_, and they may be \_\_\_
* lips/buccal mucosa
* thrombosed
* \*these will feel like a bb
103
\_\_\_ is a calcified varicosity
phlebolith
104
what is the treatment for varicosities?
no treatment, except solitary varicosities on the lips or buccal mucosa because of thrombus formation or esthetics
105
\_\_\_ is a main arterial branch that extends up into the superficial submucosal tissues without a reduction in its diameter
caliber persistent artery
106
caliber persistent arteries occur almost exclusively on \_\_\_
lip mucosa
107
what is the unique feature of caliber persistent arteries?
pulsation
108
what is the treatment for caliber persistent arteries?
no treatment
109
\_\_\_ results in limitation of mandibular movement
coronoid hyperplasia
110
what is the M:F ratio of coronoid hyperplasia prevalence?
5:1
M:F
111
is unilateral or bilateral coronoid hyperplasia more common?
bilateral
112
in coronoid hyperplasia, the mandible will deviate towards or away from the affected side?
towards
113
\_\_\_ is self-limiting, excessive growth of one of the condyles
condylar hyperplasia
114
in condylar hyperplasia, the mandible will deviate toward or away from the affected side?
away
for example, a patient with right condylar hyperplasia will have a mandible that deviates to the left
115
\_\_\_ are localized bony protruberances
exostoses
116
exostoses arise from the \_\_\_
cortical plate
117
what are the best known exostoses?
* torus palatinus
* torus mandibularis
118
other than torus plalatinus and mandibularis, what are the 3 other types of exostoses?
buccal, palatal, and solitary exostoses
119
what is the treatment for exostoses?
no treatment except removal if trauma is an issue
120
\_\_\_ is a bilateral row of bony hard nodules along the facial of the alveolar ridge
buccal exostoses
121
are buccal exostoses more common in the maxilla or mandible?
maxilla
122
buccal exostoses are found in up to \_\_\_% of adults
20%
123
\_\_\_ exostoses develop from the lingual side of the maxillary tuberosities
palatal
124
are palatal exostoses usually unilateral or bilateral?
bilateral
125
are palatal exostoses more common in males or females?
males
126
up to \_\_\_% of the population has palatal exostoses
70%
127
patients with palatal exostoses usually have accompanying \_\_\_
palatal or mandibular tori
128
\_\_\_ is a common exostosis (up to \_\_\_% of adults) that occurs in the midline of the hard palate
* torus palatinus
* 35%
129
what is the F:M ratio of the prevalence of torus palatinus?
2:1
F:M
130
what are the possible morphologic appearances of torus palatinus?
* flat - broad base with smooth surface
* spindle - midline ridge or median groove
* nodular - multiple protuberances, each with an individual base
* lobular - multiple protuberances, arise from a single base
* sessile or pedunculated
131
what is the treatment for torus palatinus?
no treatment unless there is trauma
132
\_\_\_ is a common (up to 20% of adults) exostosis that develops along the lingual aspect of the mandible
torus mandibularis
133
bilateral torus mandibularis is found in \_\_\_% of the affected population
90%
134
torus mandibularis is slightly more common in males or females?
males
135
what is the treatment for torus mandibularis?
no treatment necessary unless trauma is an issue or prior to fabrication of denture
136
\_\_\_ is also known as a lingual mandibular salivary gland depression that presents as a focal concavity of the cortical bone in the lingual surface of the mandible
stafne defect
137
with stafne defects, is salivary gland tissue histologically normal or abnormal?
normal
138
how does a stafne defect classically present?
an asymptomatic, well-circumscribed radioluscency below the mandibular canal in the posterior mandible, between the molar teeth and the angle of the mandible
139
are stafne defects usually unilateral or bilateral?
usually unilateral, but can be bilateral
140
stafne defects are found in up to \_\_\_% of adults, 90% of which are male or female?
* 0.5%
* 90% in males
141
what is the treatment for stafne defect?
no treatment
radiograph periodically
142
what are two other terms for eagle's syndrome?
stylohyoid syndrome and carotid artery syndrome
143
what is eagle's syndrome?
calcification of the stylohyoid ligament that attaches the stylohyoid process to the lesser cornu of the hyoid bone
144
what are the symptoms of eagle's syndrome?
* vague facial pain while swallowing, turning the head, or opening the mouth
* dysphagia, dysphonia, headache, dizziness
145
what is the definition of a cyst?
pathologic cavity lined by epithelium
146
cysts are typically \_\_\_-filled
fluid
147
what is the pathogenesis of cysts?
uncertain
148
once cysts develop in the oral and maxillofacial region, they slowly increase in size due to \_\_\_
elevated hydrostatic luminal pressure
149
palatal cysts of the newborn are called \_\_\_
epstein's pearls
150
palatal cysts of the newborn (epstein's pearls) occur along the \_\_\_
median palatal raphe
151
palatal cysts of the newborn (epstien's pearls) likely occur from \_\_\_
entrapped epithelium along fusion line
152
\_\_\_ are small, 1-3mm white or yellow papules that usually occur at the midline near the hard and soft palate junction
bohn's nodules
153
where are bohn's nodules located?
scattered all over the hard palate, usually near the junction of the soft palate
154
\_\_\_ likely occur from epithelial remnants from the minor salivary glands
bohn's nodules
155
bohn's nodules are present in up to \_\_\_% of infants
85%
156
what is the treatment of bohn's nodules?
none, is it self-healing
157
\_\_\_ appears as a swelling of the upper lip, lateral to the midline, resulting in elevation of the ala of the nose
nasolabial cyst
158
what are the two theories of the pathogenesis of nasolabial cysts?
1. cyst arises from epithelial remnants entrapped along the line of fusion of the maxillary, medial nasal, and lateral nasal processes
2. cysts develops from misplaced epithelium of the nasolacrimal duct
159
nasolabial cysts are most commonly found in what age patient?
30-50
160
what is the F:M ratio of the prevalence of nasolabial cysts?
3:1
F:M
161
are nasolabial cysts usually symptomatic?
no
162
are nasolabial cysts usually unilateral or bilateral?
usually unilateral, but 10% are bilateral
163
are nasolabial cysts common?
no, they are rare
164
what is the treatment for nasolabial cysts?
requires surgical removal
165
how many cases of globulomaxillary radioluscencies have been reported?
37
166
what are the two most common histological diagnoses of globulomaxillary radioluscencies?
radicular cyst and periapical granuloma
167
\_\_\_ is the most common non-odontogenic cyst of the oral cavity
nasopalatine duct cyst (aka incisive canal cyst)
168
\_\_\_ is an embryologic structure connecting the oral and nasal cavities in the area of the incisive canal
nasopalatine duct cyst
169
how does a nasopalatine duct cyst present on a radiograph?
well circumscribed radioluscency in/near the midline of anterior maxilla, between and apical to the central incisors; no root resorption
170
what is the upper limit diameter of normal size for an incisive foramen, and how does this relate to a nasopalatine duct cyst?
* 6mm diameter is the upper limit
* anything larger is considered a nasopalatine duct cyst
* anything smaller than this is normal unless there are clinical signs of pain, swelling, or drainage
171
rarely, a ___ can develop in the soft tissues of the incisive papilla without bony involvement. what are these lesions called, and what is the clinical presentation?
* nasopalatine duct cyst
* these lesions are called cysts of the incisive papilla
* they may have a bluish coloration as a result of the fluid contents in the cyst lumen
172
how is a nasopalatine duct cyst diagnosed? what is the treatment?
* biopsy is mandatory because the lesion cannot be diagnosed radiographically
* treated by surgical enucleation
173
\_\_\_ often arise after localized inflammation of the hair follicle and occur in acne-prone areas of the back (adults), head (kids), and neck
epidermoid cysts
174
\_\_\_ are the most common type of follicular cysts of the skin
epidermoid cyst (80%)
175
are epidermoid cysts more common in males or females?
males
176
what is the clinical presentation of epidermoid cysts?
* nodular, fluctuant, subcutaneous lesion
* white or yellow unless inflamed
177
about what percent of all follicular cysts of the skin are pilar cysts?
15%
178
\_\_\_ occur on the scalp and are derived from the hair follicle
pilar cysts
179
are pilar cysts more common in males or females?
females
180
what is the treatment for pilar cysts?
conservative surgical excision
181
a ___ is a benign, cystic form of a teratoma
dermoid cyst
182
are epidermoid cysts of the skin the same as epidermoid cysts of the oral cavity?
no
epidermoid cysts of the oral cavity are the simplest expression of a teratoma. they do not arise from the hair follicle and are different from the much more common epidermoid cyst of the skin
183
a ___ is lined by epidermis-like epithelium and contains dermal adnexal structures in the cyst wall
dermoid cyst
184
a dermoid cyst occurs at the midline as a \_\_\_
submucosal fluctuant swelling at the FOM
185
what population are dermoid cysts most common in?
children and young adults
186
what is the treatment for dermoid cysts?
surgical removal
187
thyroglossal duct cysts develop from what?
epithelial remnants of the thyroglossal tract
188
50% of thyroglossal duct cysts are diagnosed before what age?
20
189
\_\_\_ presents as a painless, fluctuant, muvable swelling at or near the midline, usually inferior to the hyoid bone
thyroglossal duct cyst
190
\_\_\_ develop in 1/3 of thyroglossal duct cyst cases
fistulous tracts to the skin
191
what percentage of thyroglossal duct cysts are carcinoma?
1%
192
what is the treatment for a thyroglossal duct cyst? what is the % chance for reccurance?
surgical removal
10% recurrence
193
oral lymphoepithelial cysts develop within \_\_\_
oral lymphoid tissue
Waldeyer's ring (palatine tonsils, lingual tonsils, pharyngeal adenoids)
194
lymphoid aggregates/accessory oral tonsils are found in what 3 places?
* floor of mouth (most common, 50%)
* ventral tongue
* soft palate
195
how do oral lymphoepithelial cysts present?
white or yellow, asymptomatic, submucosal mass less than 1cm in diameter
196
oral lymphoepithelial cysts are most common in what population?
young adults
197
what is the treatment for oral lymphoepithelial cysts?
biopsy or clinical diagnosis
198
a branchial cleft cyst is also called a \_\_\_
cervical lymphoepithelial cyst
199
where do branchial cleft cysts typically occur?
upper lateral neck along the anterior border of the SCM as a soft, fluctuant mass in patients ages 20-40
2/3 occur on the left neck
200
what is the treatment for a branchial cleft cyst?
surgical removal
201
\_\_\_ is a rare developmental anomaly characterized by an asymmetric overgrowth of one or more body parts (ex. unilateral macroglossia)
hemihyperplasia
202
what are the 3 syndromes associated with hemihyperplasia?
* beckwith-wieldemann syndrome
* neurofibromatosis
* proteus syndrome
203
\_\_\_ is a form of atrophy affecting one side of the face, some cases have a history of trauma, and many features are similar to localized form of scleroderma
progressive hemifacial atrophy
204
recent reports consider infection of what bacterial species to be the cause of progressive hemifacial atrophy?
borelia spp
205
\_\_\_ is a painless, unilateral enlargement of the maxillary bone, along with overgrowth of overlying gingiva
segmental odontomaxillary dysphagia
206
what is frequently missing in cases of segmental odontomaxillary dysplasia?
one or both of the developing maxillary premolars
207
\_\_\_ syndrome is characterized by craniosynostosis (premature closing of the cranial sutures)
crouzon syndrome; craniofacial dysostosis
208
what are some facial/head shapes characteristic of crouzon syndrome/ craniofacial dysostosis?
* brachycephaly (short head)
* scaphocephaly (boat-shaped head)
* trigonocephaly (triangle head)
209
the most severe cases of crouzon syndrome/ craniofacial dysostosis demonstrate a ___ skull
"cloverleaf" skull (kleeblatt-schadel deformity)
210
ocular proptosis and underdeveloped maxilla can occur in what syndrome?
crouzon syndrome/ craniofacial dysostosis
211
a skull x-ray of a patient suffering from crouzon syndrome will exhiit a ___ pattern
"beaten-metal"
212
\_\_\_ is the result of a mutation of fibroblast growth factor receptor 2 on chromosome 10q26
crouzon syndrome; craniofacial dysostosis
213
what are the characteristics of apert syndrome (acrocephalosyndactyly) that are not oral?
* ocular proptosis
* hypertelorism
* downward slant of lateral palebral fissures
* syndactyly of 2nd, 3rd, and 4th digits of hands and feet
* mental retardation
214
what are the oral characteristics of apert syndrome (acrocephalosyndactyly)?
trapezoid shape to lips (open mouth), 3/4 have cleft soft palate or bifid uvula
215
\_\_\_ results from defects of structures derived from 1st and 2nd branchial arches
mandibulofacial dysostosis; treacher-collins syndrome
216
what are the characteristics of mandibulofacial dysostosis, treacher-collins syndrome?
* hypoplastic zygoma
* coloboma (notch on outer portion of lower eyelid)
* underdeveloped mandible
