Head and neck syndromes

Question 1

What is a cleft lip?

Answer 1

Defective fusion of medial nasal process and maxillary process

Question 2

What is a cleft palate?

Answer 2

Defective fusion of the palatal shelves

Question 3

What are the causes of orofacial clefts?

Answer 3

Over 400 syndromes, maternal cigarette smoking, anticonvulsant therapy, maternal alcohol consumption, folic acid deficiency

Question 4

What is Pierre Robin Sequence?

Answer 4

Cleft palate, mandibular micrognathia, glossoptosis

Question 5

What syndromes are associated with Pierre Robin Sequence?

Answer 5

Stickler Syndrome, Velocardiofacial syndrome

Question 6

What is carcinoma is associated with Gardner Syndrome?

Answer 6

Potential for adenocarcinoma of the colon

Question 7

What are the clinical features of Gardner Syndrome?

Answer 7

Osteomas, epidermoid cysts, multiple odontomas and impacted supernumerary teeth

Question 8

What is the treatment for Gardner Syndrome?

Answer 8

Prophylactic Colectomy

Question 9

What is the prognosis for Gardner Syndrome without treatment?

Answer 9

50% with colorectal carcinoma by 30, 100% colorectal carcinoma by the 5th decade of life

Question 10

What is Hemihyperplasia?

Answer 10

Unilateral enlargement of unknown cause

Question 11

What are the associations with Hemihyperplasia?

Answer 11

Isolated or associated with syndrome

Question 12

What are the clinical features of Hemihyperplasia?

Answer 12

Unilateral macroglossia with enlarged tooth crowns

Question 13

What are tumor location associated with Hemihyperplasia?

Answer 13

Increased prevalence of abdominal tumors (Wilms tumor, adrenal cortical carcinoma, hepatoblastoma)

Question 14

What is the treatment for Hemihyperplasia?

Answer 14

Rule out disease/conditions/syndromes, periodic ultrasound to monitor abdominal tumor development, cosmetic surgery and orthodontics after growth cessation

Question 15

What is Progressive Hemifacial Atrophy?

Answer 15

Unilateral degeneration and atrophy

Question 16

When does Progressive Hemifacial Atrophy typically onset?

Answer 16

During first two decades

Question 17

What is the progression of Hemifacial Atrophy?

Answer 17

Begins as atrophy of skin and subcutaneous structures, osseous hypoplasia in the first decade

Question 18

What is the treatment for Progressive Hemifacial Atrophy?

Answer 18

Atrophy slows over 2-20 years and stabilizes, managed with methotrexate and corticosteroids, surgery and ortho after condition stabilizes

Question 19

What is Crouzon Syndrome (Craniofacial Dysostosis) and mutation?

Answer 19

Autosomal dominant, premature closure of cranial sutures, mutation in FGFR2

Question 20

What are the clinical features of Crouzon Syndrome?

Answer 20

Cranial malformation, midfacial hypoplasia with ocular proptosis, beaten metal skull radiograph, normal or near normal intelligence

Question 21

What is the treatment for Crouzon Syndrome?

Answer 21

Craniectomy for pressure relief, plastic surgery, orthognathic surgery

Question 22

What is Apert Syndrome and mutation?

Answer 22

Autosomal dominant, premature closure of cranial sutures, mutation of FGFR2

Question 23

What are the clinical features of Apert Syndrome?

Answer 23

Cranial malformation, midfacial hypoplasia with ocular proptosis, syndactyly, intellectual disability, soft palate cleft or bifid uvula

Question 24

What is the treatment for Apert Syndrome?

Answer 24

Early surgical intervention to allow brain growth, increase intellect, and social development

Question 25

What is Treacher Collins Syndrome (Mandibulofacial Dysostosis) and mutation and branchial arch association?

Answer 25

Autosomal dominant, mutation of TCOF1 gene, defect of 1st and 2nd branchial arch

Question 26

What are the clinical features of Treacher Collins Syndrome?

Answer 26

Hypoplasia of zygomatic process, downward slanting palprebral fissures, coloboma, malformed ears, underdeveloped mandible, normal intelligence

Question 27

What is the treatment for Treacher Collins Syndrome?

Answer 27

Facial reconstruction

Question 28

What is Amelogenesis Imperfecta?

Answer 28

Alteration in enamel structure

Question 29

What is Witkop’s classification of Amelogenesis Imperfecta?

Answer 29

Hypoplastic, Hypomaturation, Hypocalcification

Question 30

What is Hypoplastic Amelogenesis Imperfecta features?

Answer 30

Inadequate deposition of enamel matrix

Question 31

What is Hypomaturation Amelogenesis Imperfecta features?

Answer 31

Defective maturation of enamel crystal structure, discolored soft enamel that chips, radiodensity similar to dentin, Snow capped

Question 32

What is Hypocalcification Amelogenesis Imperfecta features?

Answer 32

No significant mineralization of enamel matrix, enamel is soft and easily lost

Question 33

What is the treatment for Amelogenesis Imperfecta?

Answer 33

Primarily esthetic unless loss of OVD

Question 34

What disease is similar to Dentinogenesis Imperfecta?

Answer 34

Similar to osteogenesis imperfecta

Question 35

What are the clinical features of Dentinogenesis Imperfecta?

Answer 35

Opalescent teeth in permanent and deciduous dentition, blue brown discoloration, enamel separates easily, bulbous crowns, cervical constriction, short/thin roots, obliterated pulp, shell teeth/enlarged pulps are rare, frequent PA lesions

Question 36

What is the treatment for Dentinogenesis Imperfecta?

Answer 36

Dentures or implants

Question 37

What dentin is affected Dentin Dysplasia Type 1?

Answer 37

Radicular dentin

Question 38

What are the characteristics of Dentin Dysplasia Type 1?

Answer 38

Crescent shaped pulp chambers, short roots, no canal, stream flowing around boulders

Question 39

What dentin is affected in Dentin Dysplasia Type 2 and feature?

Answer 39

Coronal dentin, similar to dentinogenesis imperfecta, normal clinical appearance, thistle tube

Question 40

What bacteria and gene mutation causes is Papillon-Lefevre Syndrome?

Answer 40

Primary pathogen is A. Actinomycetemcomitans, mutation of cathepsin C gene, affects skin, myeloid and lymphoid cells

Question 41

What are the clinical features of Papillon-Lefevre Syndrome?

Answer 41

Palmer/plantar keratosis, rapid, progressive periodontitis, floating teeth

Question 42

How is Papillon-Lefevre Syndrome diagnosed?

Answer 42

Biopsy to rule out other pathology

Question 43

What is the treatment for Papillon-Lefevre Syndrome?

Answer 43

Antibiotics, plaque control, CHX rinse

Question 44

What is Sturge-Weber Angiomatosis (Encephalotrigeminal Angiomatosis)?

Answer 44

Vascular proliferation of skin and brain

Question 45

What are the clinical features of Sturge-Weber Angiomatosis?

Answer 45

Nevus flammeus, intellectual disability, hemiplegia, convulsions, leptomeningeal angiomas, gyriform 'tram line' calcifications