1. The following image is from a stillborn male infant. The most likely diagnosis is:

A. Pachygyria

B. Megalencephaly

C. Polymicrogyria

D. Lissencephaly

E. Tuberous sclerosis

2. The following statement(s) is/are true regarding the diagnosis of the following image:

A. May be associated with deletion in chromosome 17.

B. Is associated with in utero acquired HIV-1 infection.

C. Is associated with fetal alcohol syndrome.

D. Is associated with trisomy 13.

E. Radiologic imaging studies reveal a "bat-wing" deformity

3.The diagnosis based on the above image is:

A. Holoprosencephaly

B. Megalencephaly

C. Polymicroguria

D. Lissencephaly

E. Tuberous sclerosis

4. The following image is from a female infant. The following statement(s) is/are true regarding the diagnosis:

A. It is known as Miller-Dieker Syndrome with about 90% of patients demonstrating a deletion in chromosome 17.

B. It is associated with fetal alcohol syndrome and in utera HIV-1 infection.

C. It is characterized as having a small posterior fossa and downward displacement of the cerebellar tonsils.

D. It is associated with cyclopia and trisomy 13.

E. It is associated with twinning.

5. The diagnosis based on the above image is:

A. Lissencephaly

B. Microencephaly

C. Arnold Chiari malformation

D. Holoprosencephaly

E. Megalencephaly

6. The following statement(s) is/are true regarding the diagnosis of the following image:

A. May be found in patients with mental retardation or in patients who are clinically normal.

B. Radiologic imaging studies reveal a "bat-wing" deformately.

C. A lipoma sometimes occupies the defect.

D. May be associated with seizures

E. All of the above

7. The diagnosis based on the above image is:

A. Holoprosencephaly

B. Megalencephaly

C. Polymicrogyria

D Lissencephaly

E. Agenesis of Corpus Callosum

8. Dandy Walker malformation is characterized by:

A. A small cranium

B. An enlarged posterior fossa with a rudimentary or absent cerebellar vermis.

C. A clinical presentation of seizures, and mental retardation.

D. Microencephaly

E. Syringomyelia

9.An infant was born with a posterior midline sacral weeping saccular-cystic mass. The infant has urinary in continence. The following image represents the process in this patient.

The following statement(s) is/are true regarding the diagnosis based on the above findings and image:

A. It is associated with prenatal B-12 deficiencies.

B. Ante-natal diagnosis may be made with elevated maternal alpha-fetoprotein levels.

C. Recurrence rates in subsequent sibling is greater than 75%.

D. Patients with this disorder do not exhibit sensory and motor deficits of the lower extremity.

E. The muscle stretch reflexes are hyperactive in the legs.

10. Neural tube defects include the following:

A. Anencephaly and encephalocele

B. Polymicrogyria and microcephaly

C. Lissencephaly and holoprosencephaly

D. Miller-Dieker Syndrome and agenesis of corpus callosum

E. Plagiocephaly

11. The diagnosis of this patient based on the presentation (question 9) and above image is:

A. Encephalocele

B. Dandy-Walker malformation

C. Meningomyelocele

D. Syringomyelia

E. Hydromyelia

12. The incidence of neural tube defects can be reduced by:

A. Maintaining normal maternal vitamin serum B-12 levels

B. Ante-natal testing of maternal serum alpha-fetoprotein levels

C. Ante-natal amniotic fluid lecithin/sphingomyelin ratio testing

D. Maintaining normal maternal serum folate levels

E. Current gene therapy methods