Congenital Genetic Disorders and Syndromes

Question 1

What is the basic mechanism that results in structural defects during development that is defined as being caused by a failure of normal organization of cells into tissues?

a) malformation
b) deformation
c) disruption
d) dysplasia

Answer 1

d) dysplasia

Question 2

What is the term for widely spaced eyes?

Answer 2

hypertelorism

Question 3

Disruptions during which phase can lead to hypodontia or supernumerary teeth?

a) initiation
b) morphodifferentiation
c) histodifferentiation
d) apposition
e) mineralization

Answer 3

a) initiation

Question 4

Disruptions during which phase can lead to microdontia, macrodontia, taurodontism, and dens invaginatus?

a) initiation
b) morphodifferentiation
c) histodifferentiation
d) apposition
e) mineralization

Answer 4

b) morphodifferentiation

Question 5

Disruptions during which phase can lead to dentinogenesis imperfecta, amelogenesis imperfecta, dentin dysplasia, and enamel hypoplasia?

a) initiation
b) morphodifferentiation
c) histodifferentiation
d) apposition
e) mineralization

Answer 5

c) histodifferentiation
d) apposition
e) mineralization

Question 6

What is the inheritance pattern for ectodermal dysplasia?

Answer 6

x-linked recessive, autosomal dominant, autosomal recessive -> there are many different forms but most common is x-linked anhidrotic form

Question 7

What syndrome would you suspect if a patient presents with sparse hair, dry skin, absence of sweat glands, normal mental status and also has full lips, hypodontia, conical/malformed teeth, and deficient alveolar ridge?

Answer 7

ectodermal dysplasia

Question 8

What is the inheritance pattern of cleidocranial dysplasia?

Answer 8

autosomal dominant or new mutation

Question 9

What syndrome would you suspect if a patient presents with partial to complete absence of clavicles, moderate short stature, frontal bossing, brachycephaly, late close of fontanels, hypertelorism, delayed eruption of permanent teeth, supernumerary teeth, and impacted teeth?

Answer 9

cleidocranial dysplasia

Question 10

What is the inheritance pattern of Williams Syndrome?

Answer 10

Autosomal dominant or new mutation

Question 11

What syndrome would you suspect if a patient presents with cardiovascular anomalies, outgoing personality, mental deficiency, hoarse voice, blue eyes with stellate pattern in the iris, hypodontia, enamel hypoplasia, prominent lips, and wide mouth?

Answer 11

Williams Syndrome

Question 12

What is the inheritance pattern of Fragile X Syndrome?

Answer 12

X-linked

Question 13

What syndrome do you suspect in a patient who presents with macrocephaly, prognathism, large ears, intellectual disability, autism, and macroorchidism?

Answer 13

Fragile X Syndrome

macroorchidism: abnormally large testes
autism: 60%

Question 14

What gene is affected in dentinogenesis imperfecta?

Answer 14

Dentin sialophosphoprotein (DSPP)

Question 15

You see a patient teeth are blue-gray or brown, susceptible to extreme wear, pulpal obliteration and dental abscesses. What do you suspect the patient has?

Answer 15

Dentinogenesis Imperfecta

Question 16

You see a patients teeth are yellow-brown to orange, are sensitive, susceptible to wear, and have taurodontism in the molars. What do you suspect the patient has?

Answer 16

Amelogenesis Imperfecta

Question 17

What is the inheritance pattern for treacher collins syndrome?

Answer 17

Autosomal dominant or sporadic

Question 18

A patient presents with normal intelligence, conductive deafness, a congenital heart defect, down-slanting palpebral fissues, malar hypoplasia, lower lid coloboma, mandibular hypoplasia, malformation of external ear, clef palate. What syndrome do you suspect?

Answer 18

Treacher collins syndrome

Question 19

What oral aspect of treacher collins patients makes them difficult intubations and display severe dental crowding?

Answer 19

micrognathia

Question 20

What is the inheritance pattern of Van Der Woude syndrome?

Answer 20

Autosomal dominant or sporadic

Question 21

A patient with normal intelligence and good health presents with lower lip pits, cleft lip/palate, cleft uvula, and hypodontia. What syndrome do you suspect this patient has?

Answer 21

Van Der Woude Syndrome

Question 22

You see a patient with moderate-severe bone fragility, hyperextensible joints, blue sclera, and delayed eruption of teeth. What syndrome do you expect this patient to have?

Answer 22

Osteogenesis Imperfecta

Question 23

A patient presents with premature loss of teeth, craniosynostosis, bone fragility, and bowed lower extremities. What do you suspect this patient to have syndromic wise?

Answer 23

Hypophosphatasia

premature loss due to lack of cementum