Question 1

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

CL and/or CP can be a feature of more than 400 different conditions, making it a very common facial anomaly. The malformations can be the result of a combination of genetic and environmental factors. For example, a maternal diet low in folic acid or when the mother takes certain anticonvulsant drugs during pregnancy increases the risk for CL with or without CP. Sometimes CL/CP is found with no other anomalies. Because either CL or CP can cause significant feeding problems and also have cosmetic implications, they are both considered major anomalies.

Question 2

What type of problem is Pierre-Robin, in which micrognathia begins a series of events that can result in an obstructed airway?&#10;A)A syndrome&#10;B)An association&#10;C)A sequence&#10;D)A dysplasia

Accepted Answer

In a sequence, one anomaly starts a chain reaction that causes another problem that then causes another and then sometimes another. The anomaly that starts out Pierre-Robin is micrognathia (a small jaw, which is caused by shortening and narrowing of the mandible) in the developing fetus. This small jaw causes the tongue to be positioned backward into the throat. The posteriorly positioned tongue can cause a cleft palate and sometimes respiratory obstruction. It is a sequence of events that started with the poorly formed jaw. Although all of these features (small jaw, posteriorly displaced tongue, respiratory obstruction, and cleft palate) occur together, they were all caused by the chain of events that started with the jaw problem.

Question 3

When geneticists assess dysmorphology, what do they consider?&#10;A)The &#34;gestalt&#34;&#10;B)The general feel and overall appearance of the patient&#10;C)Specific dysmorphic features, such as the shape of the face and the position of the ears&#10;D)All of the above

Accepted Answer

An accurate dysmorphology assessment must consider every one of the listed factors.

Question 4

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

Clinodactyly is a laterally curved digit, most often the fifth digit. An extra digit is polydactyly, and fused digits are syndactyly. Absence of fingers and/or toes is adactylia.

Question 5

Naomi and her sister have the same allele for the gene of interest; however, Naomi has cleft lip, whereas her sister has only lip pits. What genetic process explains this difference?&#10;A)Genomic imprinting&#10;B)Decreased penetrance&#10;C)Genetic heterogeneity&#10;D)Variable expressivity

Accepted Answer

The fact that two children in the same family have lip abnormalities strongly suggests a genetic cause. In this case, a gene mutation responsible for lip abnormalities is found and is autosomal dominant in transmission, with a reduced penetrance of 80% to 90%. (Recall from Chapter 4 that 80% to 90% penetrance means that out of 100 people who have the gene variant that causes the disease, between 10 and 20 of them will show no clinical signs.) For the mutation in this case, about 70% of people with lip pits also have cleft lip (CL) or cleft palate (CP). Some family members with the same gene variant can have only lip pits, whereas others have CL/CP, and still others have just CP. This is an example of the variable expressivity.

Question 6

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 describes eyes (or any paired organ) as being too far apart or widely spaced. Hypotelorism, which is not a medical term, would indicate too short a distance between two paired organs. Neither hyperoculoci nor hypo-oculoci is a real medical term.

Question 7

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 8

Why should a tall teenager 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

Marfan syndrome (MFS) is an inherited genetic connective tissue disorder in which the gene for the glycoprotein fibrillin is mutated, affecting the strength of many connective tissues. The most common manifestations include tall, lanky stature; loose or lax joints; severe myopia; and cardiovascular problems, especially mitral valve prolapse, widened aorta, and aortic aneurysm. 
The cardiovascular problems can significantly shorten the individual's life span. Dissecting aortic aneurysms and death can even occur in childhood. Strenuous exercise and heavy lifting must be avoided, as should any activity in which the chest could be hit. Thus, contact sports and those that involve running or catching a ball should be avoided.

Question 9

What mechanism results in the malformation of cleft lip?&#10;A)An abnormal developmental process&#10;B)An abnormal organization of cells&#10;C)A mechanical process&#10;D)The breakdown of an originally normal developmental process

Accepted Answer

Cleft lip/palate is caused by the failure of the lip and/or palate tissues to fuse during development. This mechanism is considered a malformation because it is due to a developmental problem during facial formation. The tissues making up the lip do not fuse properly, leaving a gap (or cleft). Although a cleft lip, with or without cleft palate, is usually caused by a combination of genetic and environmental factors, it is the result of an abnormal developmental process.

Question 10

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

A teratogen is any agent that can cause birth defects when taken or exposed to during pregnancy. A carcinogen is any agent that can cause cancer. Pleiotropy refers to the ability of a single gene mutation to cause problems in more than one tissue. Geneticomimetic is not an official term.

Question 11

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 answer of Which ear location is considered &#34;low set&#34;?&#10;A)The...

Question 12

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 13

You are working in a clinic, and a 4-year-old child is brought in with a history of cleft palate repair. His parents say they want to have another child and ask youiftheir other children will have the same problem. They mention that Mom's uncle Bob had a cleft lip. What do you say?

A)"There is a 3% to 5% risk that your next child will be affected."
B)"Looking at your family history, I can tell that there is a 20% risk that your next child will be affected."
C)"Let's make an appointment with a genetic counselor who will help determine your next child's risk."
D)"You should have carrier testing to find out if your next child is at risk."

Accepted Answer

The answer of You are working in a clinic, and...

Question 14

What is the most important action to take when assessing an infant for possible dysmorphic features?&#10;A)Assess the phenotypes of first-degree relatives.&#10;B)Count the number of minor anomalies present.&#10;C)Use an atlas that includes globally diverse populations.&#10;D)Determine whether an identified dysmorphic feature is a malformation or a deformation.

Accepted Answer

The answer of What is the most important action to...

Question 15

How is a congenital anomaly that requires intervention or management categorized?&#10;A)A dysmorphology&#10;B)A major anomaly&#10;C)A minor anomaly&#10;D)A disruption

Accepted Answer

The answer of How is a congenital anomaly that requires...

Question 16

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

The answer of What is the significance of the presence...

Question 17

Which condition in a newborn should be described as a deformation if it is the only abnormal finding?&#10;A)A unilateral clubfoot&#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

The answer of Which condition in a newborn should be...

Deck 9: Congenital Anomalies, Basic Dysmorphology, and Genetic Assessment