Chapter 32: Genetic Disorders

Garzon Maaks: Burns’ Pediatric Primary Care, 7th Edition

MULTIPLE RESPONSE

1. What are the clinical findings suggestive of Down syndrome? (Select all that apply.)
a. Brushfield spots
b. Brachycephaly
c. Protruding tongue
d. Large ears
e. Double palmar creases
ANS: A, B, C
Clinical findings associated with Down syndrome include but are not limited to Brushfield
spots, brachycephaly, small mouth with protruding tongue, small ears, and single palmar
crease.

2. Which clinical findings tend to support a diagnosis of Klinefelter syndrome? (Select all that
apply.)
a. Short arm span
b. Scoliosis
c. Small penis
d. Large testes
e. Gynecomastia
ANS: B, C, E
Klinefelter syndrome is characterized by tall stature with long arm spam, scoliosis, small
penis and testes, and gynecomastia.

3. Which developmental cues are associated with Prader-Willi syndrome? (Select all that apply.)
a. Language delays
b. Poor coordination
c. Low pain tolerance
d. Attention deficient/Hyperactive Disorder (AD/HD)
e. Mild intellectual disability
ANS: A, B, D, E
Prader-Willi developmental cues include language delays, poor motor coordination, high pain
threshold, AD/HD, and mild intellectual disability

MULTIPLE CHOICE

1. Which assessment finding noted at birth is an indication of Beckwith-Weidemann syndrome?

a. Underdevelopment of one side to the body
b. Abnormally long umbilical cord
c. Small eyes
d. Microglossia
ANS: B
 Beckwith-Weidemann syndrome is characterized by a large placenta/long umbilical cord,
macroglossia (large tongue), prominent eyes, and hemi-hyperplasia (abnormal enlargement of
one side of the body.

2. What is the primary care provider’s (PCP) primary care intervention for a child diagnosed
with achondroplasia?
a. Visual screening
b. Monitoring for hydrocephalus
c. Skin cancer screening
d. Monitoring for signs of depression
ANS: B
Achondroplasia is a form of short-limbed dwarfism. Hydrocephalus is a lifelong risk, but most
likely to develop during first 2 years of life. While possible, a child diagnosed with
achondroplasia is not at risk for the development of visual disorders, skin cancer, or
depression.