Syndromes of the Head and Neck

Question 1

In many instances, the ____ manifestation is the earliest symptom of the disease and heralds a
significant condition to follow (i.e. malignancy)

Answer 1

Oral

Question 2

Short arm of a chromosome is labeled:

Answer 2

“p” for petite

Question 3

Long arm of a chromosome is labeled:

Answer 3

“q”

Question 4

What is characterized by:

• defects arising from an excess or deficiency of whole chromosomes
• not familial (very common- 7/1,000 births
• accounts for half of all spontaneous 1st trimester abortions

Answer 4

Chromosome Disorders

Question 5

Loss of too much autosomal info to permit live birth.

Answer 5

Monosomy

Question 6

Gain of autosomal info compatible with life, but not without handicapped or shortened life span.

Answer 6

Trisomy

Question 7

Loss of an X in a female

Answer 7

Turner’s Syndrome (45X)

Question 8

Loss of an X in a male

Answer 8

Lethal (45Y)

Question 9

Extra X in female

Answer 9

Superwoman (47XXX)

Question 10

Extra X in male

Answer 10

Klinefelter’s Syndrome (47XXY)

Question 11

-traits determined by a multitude of genes, external factors, cluster in families but not “clear-cut”

Answer 11

Multifactorial Genetic Disorders

Question 12

the frequency or percentage with which an inheritable trait is manifested by individuals carrying the gene for that trait

Answer 12

Penetrance

Question 13

the extent or degree to which the inheritable traits are manifested by an individual

Answer 13

Expressivity

Question 14

• Pierre Robin Syndrome
• Parry-Romberg Syndrome
• Crouzon Syndrome
• Apert Syndrome
• Treacher Collins Syndrome
• Cleidocranial Dysplasia
• Gardner Syndrome
• Polyostotic fibrous Dysplasia
• Cherubism
• Nevoid basal cell carcinoma syndrome (Gorlin-Goltz)

Answer 14

Syndromes involving CRANIAL BONES

Question 15

• Peutz-Jeghers Syndrome
• Marfan Syndrome
• Multiple Endocrine Neoplasia Syndrome IIb
• Neurofibromatosis, Type 1
• Cowden’s Syndrome
• Papillon-Lefevre Syndrome
• Ectodermal Dysplasia
• Ehlers Danlos Syndrome

Answer 15

Syndromes involving the SKIN and SOFT TISSUE

Question 16

Syndromes associated with orofacial clefts:

Answer 16

• Van der Woude
• Crouzon and Apert
• Treacher Collins
• Cleidocranial Dysplasia
• Ectodermal Dysplasia
• Oro-facial digital
• Pierre Robin

Question 17

When does a CLEFT LIP develop and how?

Answer 17

• 6th and 7th week of development

- failure of fusion of medial nasal processes of the 1st branchial arches

Question 18

How does a CLEFT PALATE develop?

Answer 18

-failure of the premaxilla (medial nasal process) and the palatal shelves of the secondary palate

Question 19

Prevalence of Cleft Lip/Palate:

Answer 19

CL+CP > CP > CL

Question 20

Racial Prevalence of Cleft Lip +/- Palate

Answer 20

Native North Americans > Asians > Caucasians

Question 21

MInimal manifestation of a cleft palate

Answer 21

Bifid Uvula

Question 22

Treatment of Orofacial Clefts

Answer 22

• multudisciplinary
• primary lip closure (first few months of life)
• cleft palate wear appliance and have bone grafts/tissue/orthognathic procedures later

Question 23

Severe hypoplasia of mandible, glossoptosis (tongue displaced posteriorly), closure of palate blocked–> cleft palate

Answer 23

Pierre Robin Syndrome

Question 24

• SOX9 gene mutation
• face is bird-like
• large, wide U-shaped cleft palate
• respiratory/feeding problems
• malocclusion w/ missing teeth
• Male = Female

Answer 24

Pierre Robin Syndrome

Question 25

Treatment/Prognosis for Pierre Robin Syndrome

Answer 25

- CPAP to maintain airway in infants - feeding tubes until CP is addressed - mandibular distraction - Good prognosis if survive infancy

Question 26

- Uncommon unilateral degeneration and atrophy of one side of the face - Onset during first two decades - Disturbance of fat metabolism, trauma, and viral infections have been implicated

Answer 26

Parry Romberg Syndrome | Progressive Hemifacial Atrophy

Question 27

- Possibly a localized form of scleroderma - Generally unilateral affecting the facial tissues, including muscles, bones, and skin - Ocular changes, neurologic disturbances, and seizures reported - Coup de sabre

Answer 27

Parry Romberg Syndrome | Progressive Hemifacial Atrophy

Question 28

Oral manifestations include atrophy of half of the lip and tongue, shortening of the body of the mandible and the height of the ramus, retarded tooth eruption, and often malformed tooth roots

Answer 28

Parry Romberg Syndrome | Progressive Hemifacial Atrophy

Question 29

Treatment for Parry Romberg Syndrome

Answer 29

- Plastic Surgery of soft tissue defects | - Oral surgery and orthodontic therapy after the condition stabilizes

Question 30

- Unilateral enlargement of one side of the body due to unknown cause (not a hypertrophy) - Variable involvement, can involve entire side of body, a limb or just a digit

Answer 30

Hemihyperplasia

Question 31

- Unilateral enlargement of the face - Unilateral macroglossia with enlarged papillae - Enlarged crowns of teeth

Answer 31

Hemifacial Hyperplasia

Question 32

- Asymmetry often noted at birth - At puberty more accentuated; permanent when growth ceases; bone involved, skin thickened, hypertrichosis - Females > Males

Answer 32

Hemihyperplasia

Question 33

``` -Increased prevalence of abdominal tumors -Prominent telangiectasia's -Often associated with nevus flammeus -Asymmetric jaws with enlargement of the mandibular canal ```

Answer 33

Hemihyperplasia

Question 34

Treatment of Hemihyperplasia

Answer 34

- Rule out systemic disease (neurofibromatosis) | - Cosmetic surgery and orthodontic treatment after cessation of growth

Question 35

- hereditary; autosomal dominant - manifestations are due to synostosis - early closure of sutures, especially the coronal suture - "beaten copper" skull film

Answer 35

Craniofacial Dysostosis | Crouzon Syndrome

Question 36

"Frog-like" Face: - midface hypoplasia - short upper lip - exophthalmos is a constant feature - hypertelorism

Answer 36

Craniofacial Dysostosis | Crouzon Syndrome

Question 37

- protuberant frontal region - hypoplastic maxilla - high arched palate-dental malocclusion - parrot-beak nose

Answer 37

Craniofacial Dysostosis | Crouzon Syndrome