Deck 16: Congenital Abnormalities and Dysmorphic Syndromes

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Question
Which of the following would be considered a deformation?

A) Diaphragmatic hernia
B) Cleft lip
C) Neural tube defect
D) Club foot
E) Epicanthic folds
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Question
A disruption is a type of variation that is characterized by …

A) Destruction or interruption of intrinsically normal tissue
B) An underlying genetic mechanism
C) An abnormal developmental process
D) High recurrence risk
E) A cluster of defects
Question
Which of the following statements is true of holoprosencephaly?

A) It is always caused by a chromosomal defect
B) It is the defective cleavage of the forebrain
C) It is a feature of Sotos syndrome
D) It occurs only as an isolated malformation
E) None of the above
Question
What causes a "sequence" of multiple abnormalities?

A) A single gene that is expressed in several tissues
B) A single disruptive force that acts in multiple areas of the body
C) A cascade of events initiating from one initial insult
D) A genetic deletion that includes multiple genes
E) Aneuploidy
Question
Which of the following is NOT associated with teratogenic effects?

A) Folic acid consumption
B) Hyperthermia
C) Toxoplasmosis infection
D) Radiation exposure
E) Alcohol consumption
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Deck 16: Congenital Abnormalities and Dysmorphic Syndromes
1
Which of the following would be considered a deformation?

A) Diaphragmatic hernia
B) Cleft lip
C) Neural tube defect
D) Club foot
E) Epicanthic folds
Club foot
2
A disruption is a type of variation that is characterized by …

A) Destruction or interruption of intrinsically normal tissue
B) An underlying genetic mechanism
C) An abnormal developmental process
D) High recurrence risk
E) A cluster of defects
Destruction or interruption of intrinsically normal tissue
3
Which of the following statements is true of holoprosencephaly?

A) It is always caused by a chromosomal defect
B) It is the defective cleavage of the forebrain
C) It is a feature of Sotos syndrome
D) It occurs only as an isolated malformation
E) None of the above
It is the defective cleavage of the forebrain
4
What causes a "sequence" of multiple abnormalities?

A) A single gene that is expressed in several tissues
B) A single disruptive force that acts in multiple areas of the body
C) A cascade of events initiating from one initial insult
D) A genetic deletion that includes multiple genes
E) Aneuploidy
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5
Which of the following is NOT associated with teratogenic effects?

A) Folic acid consumption
B) Hyperthermia
C) Toxoplasmosis infection
D) Radiation exposure
E) Alcohol consumption
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