Congenital Anomalies

1. The following image is from a stillborn male infant. What is the most likely diagnosis?

A. Pachygyria

B. Megalencephaly

C. Polymicrogyria

D. Lissencephaly

E. Tuberous sclerosis

Correct Answer: C

2. Which of the following statement 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

Correct Answer: A

3. What is the diagnosis based on the above image?

A. Holoprosencephaly

B. Megalencephaly

C. Polymicroguria

D. Lissencephaly

E. Tuberous sclerosis

Correct Answer: D

4. The following image is from a female infant. Which of the following statements is 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.

Correct Answer: C

5. What is the diagnosis based on the above image?

A. Lissencephaly

B. Microencephaly

C. Arnold Chiari malformation

D. Holoprosencephaly

E. Megalencephaly

Correct Answer: C

6. Which of the following statement 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

Correct Answer: E

7. What is the diagnosis based on the above image?

A. Holoprosencephaly

B. Megalencephaly

C. Polymicrogyria

D Lissencephaly

E. Agenesis of Corpus Callosum

Correct Answer: E

8. Dandy Walker malformation is characterized as having:

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

Correct Answer: B

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.

Which of the following statement 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.

Correct Answer: B

10. Neural tube defects include which of 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

Correct Answer: A

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

Correct Answer: C

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

Correct Answer: D