October 26, 2024

Infant with Micrognathia and High Arched Palate

By Med-Challenger · 1 minute read

An infant boy is born with micrognathia and a high arched palate. During inspiration, his tongue falls back and puts him at risk of respiratory obstruction. He takes a long time with feedings.

What syndrome does he have?

Treacher Collins syndrome
ectodermal dysplasia
Shwachman-Diamond syndrome
Pierre Robin syndrome

The correct answer is:

Pierre Robin syndrome

Babies with Pierre Robin syndrome present with micrognathia and a high arched or cleft palate. They may be at risk of respiratory obstruction and may have difficulty feeding.

In Treacher Collins syndrome, patients may have downward sloping palpebral fissures, colobomas, sunken cheekbones, deformed pinnae, facial clefts, hypoplastic mandibles with dental malocclusion, and deafness.

Ectodermal dysplasias are a group of conditions involving the absence of some or all teeth and alveolar bone. Shwachman-Diamond syndrome consists of exocrine pancreatic insufficiency and hematologic abnormalities due to bone marrow failure.

Reference:

Kliegman RA, et al. Nelson's Textbook of Pediatrics. 20th ed., 2016.

This question appears in Med-Challenger Pediatric Nurse Practitioner Exam Review with CNE/CE.

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