Development Diseases

Question 1

_____ anomalies are structural defects that are present at birth.
-does not imply a genetic basis

Answer 1

Congenital

Question 2

_______ syndrome refers to multiple congenital anomalies that result from a single causative condition that simultaneously affects several tissues.

Answer 2

Malformation

Question 3

______ refers to multiple congenital anomalies that result from a single causative condition that produces a sequence of downstream effects

Answer 3

Sequence

Question 4

Lethal
•Failure of migration of neural crest mesenchyme
•Aplasia of mandible
•Ears fused in midline

Answer 4

Agnathia

Question 5

•Autosomal dominant, but many cases are new mutations
•Associated with a mutation in the Core Binding Factor Alpha 1 (CBFA1) gene at 6p21 that controls osteoblast differentiation, resulting in a generalized disorder of skeletal structures
•CBFA1 also plays a role in odontogenesis through effects on dental lamina proliferation
•Hypoplasia of clavicles
•Frontal bossing
•Midface hypoplasia
•Supernumerary teeth
-Unerupted teeth

Answer 5

Cleidocranial dysplasia

Question 6

• Autosomal dominant
• Mutation in fibroblast growth factor receptor (FGFR2) gene at 10q
• Variability in clinical appearance
• Craniosynostosis -premature closing of cranial sutures
• Midface hypoplasia
• Proptosis -shallow orbits
• Increased digital markings
• “Beaten metal” pattern

Answer 6

Craniofacial dysplasia

Question 7

• Autosomal dominant inheritance
• Mutation of gene at 5q31.3-32
• Defects in structures derived form the 1st and 2nd branchial arches
• Hypoplastic zygoma
• Coloboma (notch) of lower eyelid
• Ear anomalies
• Mandibular hypoplasia

Answer 7

Mandibulofacial dysplasia

Question 8

What are the 3 things involved in the Pierre Robin sequence?

Answer 8

Micrognathia
Cleft palate
Glossoptosis

Question 9

•A functional pituitary adenoma produces excessive growth hormone secretion after closure of epiphyseal plates
•Space-occupying lesion
–Hypopituitarism
–Visual field changes
–Headache
•Progressive coarsening of facial features
•Enlarged nose
•Mandibular prognathism
•Soft palate hypertrophy
•Macroglossia
•Growth of distal extremities

Answer 9

Acromegaly

Question 10

The following disorders cause \_\_\_\_\_\_\_\_:
•Hemifacial hyperplasia
•Hemifacial atrophy: Romberg Syndrome
•Hemifacial microsomia (hypoplasia)
•Condylar hyperplasia
•Segmental odontomaxillary dysplasia 
-hemimaxillofacial dysplasia

Answer 10

Facial Asymmetry

Question 11

• Asymmetric overgrowth of one side of the face
• Sporadic, not hereditary
• Timing of presentation variable
• May involve all tissues on affected side, including tongue, teeth, even mandibular canal
• Unilateral macroglossia

Answer 11

Hemifacial hyperplasia

Question 12

• Atrophy of skin and soft tissues of one side of the face
• Affects trigeminal dermatome
• Begins in first two decades, progresses for several years, then stabilizes
• Requires only cosmetic treatment

Answer 12

Progressive Hemifacial Atrophy(Romberg Syndrome)

Question 13

•Hypoplasia of one side of the face

Answer 13

Hemifacial Microsomia

Question 14

Idiopathic unilateral growth of the mandibular condyle
Treatment:
•Active growth -condylectomy
•Growth ceased -orthognathic surgery

Answer 14

Condylar Hyperplasia

Question 15

_______ is due to a lack of merging between the maxillary process and the medial nasal process

Answer 15

Cleft lip

Question 16

Are most orofacial clefts genetic/hereditary or environmental?

Answer 16

Hereditary/genetic

Question 17

• Redundant fold of tissue

* Congenital and acquired forms

Answer 17

Double Lip

Question 18

•A blind tract resulting from incomplete merging between the maxillary and mandibular processes

Answer 18

Commissural Lip Pits

Question 19

•A blind tract resulting from defective merging within the mandibular process•A marker for cleft syndromes

Answer 19

Paramedian Lip pits

Question 20

The following are congenital causes of ______
•Vascular malformations: lymphangioma/hemangioma
•Down Syndrome
•Neurofibromatosis
•Multiple Endocrine Neoplasia

Answer 20

Macroglossia

Question 21

The following are acquired causes of \_\_\_\_\_\_:
•Edentulism
•Muscular hypertrophy
•Amyloidosis
•Acromegaly

Answer 21

Macroglossia

Question 22

•A short, thick lingual frenum limits movement of the tongue

Answer 22

Ankyloglossia (Tongue tied)

Question 23

• Ectopic thyroid tissue in posterior midline of tongue

* May lack thyroid tissue in neck

Answer 23

Lingual thyroid

Question 24

• Cystic change of thyroglossal tract epithelium

* Midline of neck in young people

Answer 24

Thyroglossal Duct Cyst

Question 25

• Cystic change of crypt epithelium of lymphoid aggregate
• Young adults
• Floor of mouth/ Tonsils

Answer 25

Oral Lymphoepithelial Cyst

Question 26

• Branchial Cleft Cyst
• Cystic change of branchial epithelium
• Upper lateral neck anterior to border of sternocleidomastoid muscle in young adults
• Stratified squamous epithelial lining
• Lymphoid tissue with germinal centers in wall

Answer 26

Cervical Lymphoepithelial Cyst

Question 27

• Ectopic sebaceous glands

* Development stimulated at puberty

Answer 27

Fordyce Granules

Question 28

• Autosomal dominant
• Associated with generalized increased risk for malignancy
• Oral and perioral freckling–Present in infancy, fades with age
• Gastrointestinal hamartomatous polyps: Intussusception

Answer 28

Peutz-Jegher Syndrome

Question 29

• Port wine nevus in trigeminal nerve distribution
• Encephalo-trigeminal angiomatosis -affects tissues of brain and face
• Not hereditary

Answer 29

Sturge Weber Syndrome