Patients with Trisomy 13 and 18 Are Diverse in Diagnoses, Frequently Require Otolaryngologic Care

by Linda Kossoff •

What are the otolaryngologic clinical characteristics and required procedures for patients with trisomy 13 (T13) and trisomy 18 (T18)?

BOTTOM LINE

Patients with a diagnosis of trisomy 13 or 18 often require multidisciplinary management, and the range of care spans the breadth of otolaryngology.

BACKGROUND: T13 and T18 are common congenital chromosomal abnormalities characterized by a distinctive set of physical features, often comorbid with cardiac, craniofacial, and neurologic issues. Multiple specialists, including otolaryngologists, are involved in these patients’ care. Although T13 and T18 are considered mostly universally fatal, improvements in cardiac surgery have increased survival rates.

STUDY DESIGN: Retrospective review.

SETTING: Department of Otolaryngology and Communication Enhancement, Boston Children’s Hospital, Boston, Mass.

SYNOPSIS: Researchers searched electronic medical records for patients with a diagnosis of T13 or T18 for whom a single institution’s otolaryngology service provided inpatient or outpatient care from February 1997 to March 2021. Forty-seven patients met criteria for final analysis. Of these 47 patients, 18 were diagnosed with T13 and 29 with T18. Approximately 94% of patients required consultation with another specialty in addition to otolaryngology. Among this cohort, the most common diagnoses were gastroesophageal disease (47%), dysphagia (40%), otitis media (38%), and obstructive sleep apnea (OSA) (34%). Nearly three-quarters (74%) of patients required an otolaryngologic procedure, mostly diagnostic in nature. The most common surgical otolaryngology procedures were direct laryngoscopy/bronchoscopy, tonsillectomy and/or adenoidectomy, tympanostomy tube placement, tracheostomy, and cleft lip/palate repair. Patients with T18 were significantly more likely to have external auditory canal stenosis and OSA; patients with T13 were more likely to have cleft lip and palate. Authors note that cardiac-related survival gains increase the likelihood of otolaryngologists on treatment teams. Study limitations included its retrospective nature and use of data from a single institution.

CITATION: Benson J, Stewart C, Kenna MA, et al. Otolaryngologic manifestations of trisomy 13 and trisomy 18 in pediatric patients. Laryngoscope. 2023;133:1501-1506.