7th Edition – Zitelli Questions 1-200 | All Chapters |
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DOCUMENT INFORMATION
Book: Zitelli and Davis' Atlas of Pediatric Physical Diagnosis
Edition: 7th Edition
Authors: Basil J. Zitelli, Sara C. McIntire, Andrew J. Nowalk
Publisher: Elsevier
Publication Year: 2018
ISBN: 9780323393034
Resource Type: Test Bank (Exam Questions & Answers)
Total Questions: 200+
Format: Multiple Choice Questions with Rationales
CHAPTER 1: GENETIC DISORDERS AND DYSMORPHIC
CONDITIONS
,Question 1
A 2-day-old newborn is noted to have low-set ears, a small mandible, and a cleft palate.
The nurse suspects which genetic syndrome?
A. Down syndrome
B. Treacher Collins syndrome
C. Pierre Robin sequence
D. Crouzon syndrome
Answer: C
Rationale: Pierre Robin sequence is characterized by micrognathia (small
mandible), glossoptosis (tongue displacement), and cleft palate. Low-set ears are
also commonly seen. Down syndrome presents with different facial features
including epicanthal folds and flat nasal bridge. Treacher Collins syndrome involves
malar hypoplasia and downward-slanting palpebral fissures. Crouzon syndrome
involves craniosynostosis and midface hypoplasia.
Question 2
A 6-month-old infant presents with hypotonia, a flat facial profile, and a single palmar
crease. Which diagnostic test would confirm the suspected diagnosis?
A. Thyroid function tests
B. Chromosomal karyotype
C. Serum calcium levels
D. MRI of the brain
,Answer: B
Rationale: The clinical presentation is classic for Down syndrome (trisomy 21). A
chromosomal karyotype is the definitive diagnostic test to confirm the presence of
an extra chromosome 21. While hypotonia can be seen in other conditions, the
combination of features strongly suggests a genetic disorder requiring
chromosomal analysis.
Question 3
A newborn is noted to have a "scarf sign" where the arm can be wrapped around the
neck with little resistance. This finding is most consistent with:
A. Increased muscle tone
B. Decreased muscle tone (hypotonia)
C. Normal newborn tone
D. Asymmetric tone
Answer: B
Rationale: The scarf sign is a clinical assessment of muscle tone in newborns. When
the examiner can easily pull the infant's arm across the chest and around the neck
with minimal resistance, this indicates hypotonia. This finding is commonly seen in
conditions such as Down syndrome, Prader-Willi syndrome, and other
neuromuscular disorders.
,
Question 4
A 4-year-old child has a history of developmental delay, macroorchidism (large testes),
and prominent ears. These findings are characteristic of:
A. Klinefelter syndrome
B. Fragile X syndrome
C. Turner syndrome
D. Noonan syndrome
Answer: B
Rationale: Fragile X syndrome is the most common inherited cause of intellectual
disability. Key features include macroorchidism (post-pubertal), large prominent
ears, a long narrow face, and developmental delay. Klinefelter syndrome (XXY)
presents with small testes. Turner syndrome (XO) is seen in females and presents
with short stature and webbed neck. Noonan syndrome includes webbed neck and
pulmonary stenosis.
Question 5
A newborn has a protuberant tongue, a single transverse palmar crease, and a gap
between the first and second toes (sandal gap). The nurse should suspect:
A. Trisomy 18
B. Trisomy 13