Sign InSign Up
All Sample Questions

Congenital Disorder Involving Pharyngeal Arches 1

Congenital disorder involving pharyngeal arches


Vignette: A 5-day-old newborn girl is brought to the clinic by her parents due to concerns about her feeding. They report that she has difficulty swallowing and often chokes during feedings. An exam reveals a small mouth, cleft palate, and micrognathia. The pediatrician suspects a congenital disorder involving the first and second pharyngeal arches. Which of the following is the most likely diagnosis?


A. Treacher Collins syndrome

B. Pierre Robin sequence

C. Down syndrome

D. Apert syndrome

E. Crouzon syndrome


B. Pierre Robin sequence


Pierre Robin sequence is a congenital condition characterized by micrognathia (small lower jaw), glossoptosis (downward displacement or retraction of the tongue), and cleft palate. It is caused by developmental abnormalities of the first and second pharyngeal arches. The small jaw causes the tongue to be positioned at the back of the mouth, which can interfere with feeding and breathing. This condition often requires multidisciplinary management, including surgery to improve airway patency and feeding, speech therapy, and dental care.

The other choices listed are also craniofacial disorders, but they do not align with the symptomatology described in the vignette. Treacher Collins syndrome (choice A) involves abnormalities of the first and second pharyngeal arches but manifests with facial abnormalities, including hypoplasia of the zygomatic bones and mandible, external ear abnormalities, and lower eyelid colobomas. Down syndrome (choice C) is a chromosomal disorder that includes a variety of physical anomalies and cognitive impairment. Apert syndrome (choice D) and Crouzon syndrome (choice E) are both characterized by craniosynostosis, facial malformations, and syndactyly, none of which are described in the vignette.

USMLE Test Prep
a StudyNova service


GuidesStep 1 Sample QuestionsPricing

Install App coming soon

© 2024 StudyNova, Inc. All rights reserved.