Question 1

How is a sequence different from a syndrome?&#10;A)A sequence is usually caused by a single gene mutation,and a syndrome is always caused by a chromosomal abnormality.&#10;B)A syndrome is usually caused by a single gene mutation,and a sequence is always caused by a chromosomal abnormality.&#10;C)In a syndrome one structural problem leads to development of other problems,whereas a sequence is a collection of separate but consistent anomalies.&#10;D)In a sequence one structural problem leads to development of other problems,whereas a syndrome is a collection of separate but consistent anomalies.

Accepted Answer

In a sequence, one primary defect leads to a cascade of secondary anomalies, whereas a syndrome is a set of anomalies that consistently occur together due to a common cause.

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?&#10;A)Pleiotropic&#10;B)Teratogenic&#10;C)Carcinogenic&#10;D)Geneticomimetic

Accepted Answer

The drug is teratogenic, meaning it can cause severe birth defects if taken during pregnancy.

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?&#10;A)Sequence&#10;B)Disruption&#10;C)Syndrome&#10;D)Malformation

Accepted Answer

A syndrome is a collection of signs and symptoms that occur together and are characteristic of a specific disorder or condition. In this case, the dysmorphic features are related to a single known genetic cause, which fits the definition of a syndrome. Sequences and disruptions refer to specific types of developmental anomalies, while malformation is a more general term that can refer to any structural abnormality.

Question 4

Which term is used to describe the condition of widely spaced eyes?&#10;A)Hypertelorism&#10;B)Hypotelorism&#10;C)Hyperoculoci&#10;D)Hypo-oculoci

Accepted Answer

Hypertelorism is a medical term used to describe the condition of widely spaced eyes.

Question 5

Which condition in a newborn should be described as a deformation if it is the only abnormal finding?&#10;A)A unilateral club foot&#10;B)A sealed (imperforate)anus&#10;C)The absence of a thyroid gland&#10;D)The presence of six toes on each foot

Accepted Answer

A deformation refers to an abnormality in shape or position that occurs during development in the uterus. A unilateral club foot is a deformity since it affects the shape of the foot. The other answer choices refer to malformations or agenesis, which indicate a complete absence or failure of development of a specific structure.

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?&#10;A)It is an inherited normal variation of an anatomical feature.&#10;B)All three family members should be referred to a geneticist for a formal evaluation.&#10;C)The family is most likely descended from Neanderthal ancestors rather than from Cro-Magnon ancestors.&#10;D)This physical anatomical malformation is a type of deformation caused by prenatal compression of soft skull areas.

Accepted Answer

With no other physical abnormalities or developmental issues, the presence of frontal bossing in a parent and offspring represents only anatomic variation that is heritable. The issue does not require genetic counseling or investigation. It is not caused by prenatal compression or post-birth positioning. Although Neanderthal prehistoric people had very prominent foreheads and brow ridges, frontal bossing is found in people of all races, origins, and ethnicities.

Question 7

Which statement regarding cleft lip (CL)with or without cleft palate (CP)is correct?&#10;A)It is the rarest facial anomaly.&#10;B)These features are not found in isolation.&#10;C)The causes are both genetic and environmental.&#10;D)CL without CP is a minor anomaly,and CL with CP is a major anomaly.

Accepted Answer

Cleft lip with or without cleft palate is caused by a combination of genetic and environmental factors, such as maternal smoking or alcohol consumption during pregnancy. It is not the rarest facial anomaly as stated in option A. Option B is incorrect as there are cases where cleft lip or cleft palate can occur in isolation. Option D is also incorrect as both cleft lip without palate and cleft lip with palate are considered major anomalies.

Question 8

Which ear location is considered &#34;low set&#34;?&#10;A)The earlobes are aligned with the highest point of the upper lip.&#10;B)The earlobes are aligned with the highest point of the bottom lip.&#10;C)The roots of the ears are aligned with the outer canthus of the eyes.&#10;D)The roots of the ears are aligned an inch below the outer canthus of the eyes.

Accepted Answer

The usual anatomic position for the ear is having the root of the ear located on an imaginary horizontal line extending from the outer canthus to the side of the head. Thus selection C is the "normal" anatomic position for the ears, and the position described in selection D is considered low set. Earlobe location is not used to determine ear position because it varies with ear size (length).

Question 9

Which statement regarding the fetal alcohol spectrum disorder (FASD)phenotype is correct?&#10;A)Genetic and environmental factors influence the FASD phenotype.&#10;B)The malformations in the phenotype of FASD represent a sequence.&#10;C)The genotype of FASD accurately predicts the phenotype of FASD.&#10;D)The phenotype of FASD accurately predicts the genotype of FASD.

Accepted Answer

FASD results from both genetic and environmental factors, including maternal alcohol consumption during pregnancy. The phenotype of FASD can vary widely depending on the timing, amount, and pattern of alcohol exposure during pregnancy, as well as other individual and maternal factors. The genotype does not accurately predict the phenotype or severity of FASD, and there is no clear evidence for a specific FASD gene or genetic sequence.

Question 10

How does genetic assessment differ from routine physical assessment?&#10;A)Routine physical assessment relies on personal history,and genetic assessment relies on the recorded family history.&#10;B)Genetic assessment requires only inspection,and routine physical assessment involves inspection,palpation,and auscultation.&#10;C)Genetic assessment encompasses routine physical assessment and always adds the consideration of genetic causes for findings.&#10;D)Routine physical assessment is performed by all health-care professionals,and genetic assessment is performed only by genetic professionals.

Accepted Answer

All parts of a routine physical assessment are included in a genetic assessment and can be performed by general health-care professionals as well as by genetic professionals. Both routine physical assessment and genetic assessment include obtaining a personal and a family history. A genetic assessment always includes consideration of a genetic cause for findings.

Question 11

Why should a tall teenage with Marfan syndrome avoid joining the high school basketball team?&#10;A)The excessively long limbs have reduced bone density,increasing the risk for fractures.&#10;B)The disorder is associated with weakened blood vessel walls that could rupture during strenuous activity.&#10;C)The disorder is associated with glycogen storage deficiency,and the individual could become seriously hypoglycemic during strenuous activity.&#10;D)Although people with Marfan syndrome are tall,they also have poor balance that impairs gross motor coordination,increasing the risk for injury.

Accepted Answer

The answer of Why should a tall teenage with Marfan...

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?&#10;A)Dysplasia&#10;B)Disruption&#10;C)Deformation&#10;D)Malformation

Accepted Answer

The answer of Which term is used to describe an...

Question 13

Which characteristic or feature distinguishes a major anomaly from a minor anomaly?&#10;A)Major anomalies affect tissue structure,and minor anomalies affect tissue function.&#10;B)Minor anomalies affect tissue structure,and major anomalies affect tissue function.&#10;C)Minor anomalies occur in external tissues,and major anomalies occur in internal tissues.&#10;D)Major anomalies require medical attention,whereas minor anomalies are considered a variation in structure.

Accepted Answer

The answer of Which characteristic or feature distinguishes a major...

Question 14

Which types of problems are more likely to be caused by a chromosomal abnormality?&#10;A)Single structural anomalies&#10;B)Deformations&#10;C)Syndromes&#10;D)Dysplasias

Accepted Answer

The answer of Which types of problems are more likely...

Question 15

What is the best action to take when you observe the presence of a smooth philtrum on a young child?&#10;A)Obtain a genetics referral as soon as possible.&#10;B)Assess for the presence of any other dysmorphic features.&#10;C)Document the finding in the medical record as the only action.&#10;D)Gently explain to the parents that this finding is cause for concern.

Accepted Answer

The answer of What is the best action to take...

Question 16

Which anomaly constitutes clinodactyly?&#10;A)An extra toe on one foot&#10;B)A laterally curved fifth finger&#10;C)Complete absence of fingers and toes&#10;D)Fusion of two fingers on the right hand

Accepted Answer

The answer of Which anomaly constitutes clinodactyly?&#10;A)An extra toe on...

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