Deck 7: Congenital Anomalies, basic Dysmorphology, and Genetic Assessment

Question 1

How is a sequence different from a syndrome?

A)A sequence is usually caused by a single gene mutation,and a syndrome is always caused by a chromosomal abnormality.
B)A syndrome is usually caused by a single gene mutation,and a sequence is always caused by a chromosomal abnormality.
C)In a syndrome one structural problem leads to development of other problems,whereas a sequence is a collection of separate but consistent anomalies.
D)In a sequence one structural problem leads to development of other problems,whereas a syndrome is a collection of separate but consistent anomalies.

Answer 1

In a sequence one structural problem leads to development of other problems,whereas a syndrome is a collection of separate but consistent anomalies.

Question 2

What is the best description of a drug prescribed to control acne that also causes severe birth defects when it is taken during pregnancy?

A)Pleiotropic
B)Teratogenic
C)Carcinogenic
D)Geneticomimetic

Answer 2

Teratogenic

Question 3

What term is used to describe the condition of a child who has several dysmorphic features that are related to a single known genetic cause?

A)Sequence
B)Disruption
C)Syndrome
D)Malformation

Answer 3

Syndrome

Question 4

Which term is used to describe the condition of widely spaced eyes?

A)Hypertelorism
B)Hypotelorism
C)Hyperoculoci
D)Hypo-oculoci

Question 5

Which condition in a newborn should be described as a deformation if it is the only abnormal finding?

A)A unilateral club foot
B)A sealed (imperforate)anus
C)The absence of a thyroid gland
D)The presence of six toes on each foot

Question 6

What is the significance of the presence of frontal bossing in one parent and two children within a family as the only physical or developmental abnormality?

A)It is an inherited normal variation of an anatomical feature.
B)All three family members should be referred to a geneticist for a formal evaluation.
C)The family is most likely descended from Neanderthal ancestors rather than from Cro-Magnon ancestors.
D)This physical anatomical malformation is a type of deformation caused by prenatal compression of soft skull areas.

Question 7

Which statement regarding cleft lip (CL)with or without cleft palate (CP)is correct?

A)It is the rarest facial anomaly.
B)These features are not found in isolation.
C)The causes are both genetic and environmental.
D)CL without CP is a minor anomaly,and CL with CP is a major anomaly.

Question 8

Which ear location is considered "low set"?

A)The earlobes are aligned with the highest point of the upper lip.
B)The earlobes are aligned with the highest point of the bottom lip.
C)The roots of the ears are aligned with the outer canthus of the eyes.
D)The roots of the ears are aligned an inch below the outer canthus of the eyes.

Question 9

Which statement regarding the fetal alcohol spectrum disorder (FASD)phenotype is correct?

A)Genetic and environmental factors influence the FASD phenotype.
B)The malformations in the phenotype of FASD represent a sequence.
C)The genotype of FASD accurately predicts the phenotype of FASD.
D)The phenotype of FASD accurately predicts the genotype of FASD.

Question 10

How does genetic assessment differ from routine physical assessment?

A)Routine physical assessment relies on personal history,and genetic assessment relies on the recorded family history.
B)Genetic assessment requires only inspection,and routine physical assessment involves inspection,palpation,and auscultation.
C)Genetic assessment encompasses routine physical assessment and always adds the consideration of genetic causes for findings.
D)Routine physical assessment is performed by all health-care professionals,and genetic assessment is performed only by genetic professionals.

Question 11

Why should a tall teenage with Marfan syndrome avoid joining the high school basketball team?

A)The excessively long limbs have reduced bone density,increasing the risk for fractures.
B)The disorder is associated with weakened blood vessel walls that could rupture during strenuous activity.
C)The disorder is associated with glycogen storage deficiency,and the individual could become seriously hypoglycemic during strenuous activity.
D)Although people with Marfan syndrome are tall,they also have poor balance that impairs gross motor coordination,increasing the risk for injury.

Question 12

Which term is used to describe an anomaly caused by a physical or mechanical force that prevents the proper growth of a structure that would have developed normally if the force was not present?

A)Dysplasia
B)Disruption
C)Deformation
D)Malformation

Question 13

Which characteristic or feature distinguishes a major anomaly from a minor anomaly?

A)Major anomalies affect tissue structure,and minor anomalies affect tissue function.
B)Minor anomalies affect tissue structure,and major anomalies affect tissue function.
C)Minor anomalies occur in external tissues,and major anomalies occur in internal tissues.
D)Major anomalies require medical attention,whereas minor anomalies are considered a variation in structure.

Question 14

Which types of problems are more likely to be caused by a chromosomal abnormality?

A)Single structural anomalies
B)Deformations
C)Syndromes
D)Dysplasias

Question 15

What is the best action to take when you observe the presence of a smooth philtrum on a young child?

A)Obtain a genetics referral as soon as possible.
B)Assess for the presence of any other dysmorphic features.
C)Document the finding in the medical record as the only action.
D)Gently explain to the parents that this finding is cause for concern.

Question 16

Which anomaly constitutes clinodactyly?

A)An extra toe on one foot
B)A laterally curved fifth finger
C)Complete absence of fingers and toes
D)Fusion of two fingers on the right hand