Article
Otolaryngological features in a cohort of patients affected with 22q11.2 deletion syndrome: A monocentric survey.
American journal of medical genetics. Part A - 1 Oct 2018
Grasso Fiorentino, Cirillo Emilia, Quaremba Giuseppe, Graziano Vincenzo, Gallo Vera, Cruoglio Letizia, Botta Carmine, Pignata Claudio, Motta Sergio
Abstract excerpt
Otorhinolaryngologic manifestations are common in 22q11.2 deletion syndrome (22q11.2DS), but poorly described. This study aimed to better define the ear-nose-throat (ENT) phenotype of 22q11.2DS patients, in the attempt to best detect subjects requiring subspecialist intervention. We enrolled 25 patients affected with 22q11.2DS. Anatomic and functional ENT findings were investigated using clinical, laboratory, and...
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