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Clinical Challenge
Pathology
October 3, 2019

Neck Mass in a Newborn With 22q11.2 Deletion Syndrome

Author Affiliations
  • 1Medical University of South Carolina, Charleston, South Carolina
JAMA Otolaryngol Head Neck Surg. Published online October 3, 2019. doi:10.1001/jamaoto.2019.2803

An 11-day-old boy with 22q11.2 deletion syndrome, tetralogy of Fallot, and unilateral renal agenesis presented with a right neck mass and intermittent inspiratory stridor present at birth. The patient did not require positive pressure or intubation, but he had intermittent stridor associated with desaturations. He had feeding difficulty and failure to thrive. On physical examination, the newborn had facial dysmorphism, including a broad and flat nasal dorsum and mild micrognathia. Flexible fiberoptic laryngoscopy revealed a cystic lesion consistent with a vallecular cyst. A modified barium swallow study demonstrated laryngeal penetration and aspiration of thin and nectar-thick liquids. A diffuse, soft, palpable mass was present along the right neck.

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