Question 1

How is a sequence different from a syndrome?

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?

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?

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?

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?

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?

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?

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 "low set"?

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?

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?

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?

Accepted Answer

Marfan syndrome is associated with weakened blood vessel walls, which could rupture during strenuous physical activity like playing basketball. Therefore, it is advised for a tall teenager with Marfan syndrome to avoid joining the high school basketball team.

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?

Accepted Answer

Deformation refers to an anomaly caused by a physical or mechanical force that alters the shape or position of a structure that would have developed normally if the force was not present.

Question 13

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

Accepted Answer

Major anomalies typically require medical attention due to their potential impact on health or function, whereas minor anomalies are often considered variations that do not significantly affect health or function.

Question 14

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

Accepted Answer

Chromosomal abnormalities are more likely to lead to a syndrome, which is a collection of abnormalities that may affect many organs and systems throughout the body. Single structural anomalies and deformations may be caused by a variety of factors, including genetic mutations or environmental factors. Dysplasias refer to abnormal tissue development and are not necessarily linked to chromosomal abnormalities.

Question 15

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

Accepted Answer

The presence of a smooth philtrum can be a sign of fetal alcohol spectrum disorder, so it is important to assess for the presence of other dysmorphic features that may indicate this condition. A genetics referral may also be necessary, but it is important to gather more information before taking that step. Simply documenting the finding without further investigation would not be sufficient, and it may be premature to cause concern in parents without more information.

Question 16

Which anomaly constitutes clinodactyly?

Accepted Answer

Clinodactyly is a condition in which the fifth finger is laterally curved towards the adjacent finger. This is the most common form of digital deformity. An extra toe on one foot (A) is known as polydactyly, complete absence of fingers and toes (C) is known as Amelia, and fusion of two fingers on the right hand (D) is known as syndactyly.

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