Question 1

What are the clinical findings suggestive of Down syndrome? (Select all that apply.)&#10;A) Brushfield spots&#10;B) Brachycephaly&#10;C) Protruding tongue&#10;D) Large ears&#10;E) Double palmar creases

Accepted Answer

Brushfield spots, brachycephaly, and a protruding tongue are common clinical findings in individuals with Down syndrome. Large ears and double palmar creases are not typically associated with Down syndrome.

Question 2

Which assessment finding noted at birth is an indication of Beckwith-Weidemann syndrome?&#10;A) Underdevelopment of one side to the body&#10;B) Abnormally long umbilical cord&#10;C) Small eyes&#10;D) Microglossia

Accepted Answer

One of the common features of Beckwith-Weidemann syndrome is an abnormally long umbilical cord. Other characteristic features include overgrowth, abdominal wall defects, and macroglossia (enlarged tongue). Underdevelopment of one side of the body or microglossia (small tongue) are not specific to Beckwith-Weidemann syndrome. Small eyes may be associated with other genetic conditions, but not specifically with Beckwith-Weidemann syndrome.

Question 3

What is the primary care provider's (PCP) primary care intervention for a child diagnosed with achondroplasia?&#10;A) Visual screening&#10;B) Monitoring for hydrocephalus&#10;C) Skin cancer screening&#10;D) Monitoring for signs of depression

Accepted Answer

Monitoring for hydrocephalus is a primary care intervention for a child diagnosed with achondroplasia. Achondroplasia is a genetic disorder that affects bone growth, and individuals with this condition are at higher risk for developing hydrocephalus, a condition where there is excess fluid in the brain. Regular monitoring and management of hydrocephalus can help prevent neurological complications. Visual screening, skin cancer screening, and monitoring for signs of depression may also be important interventions for individuals with achondroplasia, but they are not the primary care provider's primary intervention.

Question 4

Which developmental cues are associated with Prader-Willi syndrome? (Select all that apply.)&#10;A) Language delays&#10;B) Poor coordination&#10;C) Low pain tolerance&#10;D) Attention deficient/Hyperactive Disorder (AD/HD)&#10;E) Mild intellectual disability

Accepted Answer

Prader-Willi syndrome is associated with language delays, poor coordination, AD/HD, and mild intellectual disability. Low pain tolerance may also be a symptom, but it is not universally present in individuals with the disorder.

Question 5

Which clinical findings tend to support a diagnosis of Klinefelter syndrome? (Select all that apply.)&#10;A) Short arm span&#10;B) Scoliosis&#10;C) Small penis&#10;D) Large testes&#10;E) Gynecomastia

Accepted Answer

The answer of Which clinical findings tend to support a...

Deck 32: Genetic Disorders