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

Question 1

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.

Answer 1

The causes are both genetic and environmental.

Question 2

What type of problem is Pierre-Robin, in which micrognathia begins a series of events that can result in an obstructed airway?

A)A syndrome
B)An association
C)A sequence
D)A dysplasia

Answer 2

A sequence

Question 3

When geneticists assess dysmorphology, what do they consider?

A)The "gestalt"
B)The general feel and overall appearance of the patient
C)Specific dysmorphic features, such as the shape of the face and the position of the ears
D)All of the above

Answer 3

All of the above

Question 4

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

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?

A)Genomic imprinting
B)Decreased penetrance
C)Genetic heterogeneity
D)Variable expressivity

Question 6

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

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

Question 7

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 8

Why should a tall teenager 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 9

What mechanism results in the malformation of cleft lip?

A)An abnormal developmental process
B)An abnormal organization of cells
C)A mechanical process
D)The breakdown of an originally normal 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?

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

Question 11

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 12

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 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."

Question 14

What is the most important action to take when assessing an infant for possible dysmorphic features?

A)Assess the phenotypes of first-degree relatives.
B)Count the number of minor anomalies present.
C)Use an atlas that includes globally diverse populations.
D)Determine whether an identified dysmorphic feature is a malformation or a deformation.

Question 15

How is a congenital anomaly that requires intervention or management categorized?

A)A dysmorphology
B)A major anomaly
C)A minor anomaly
D)A disruption

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?

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 17

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

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