title: Bilateral vocal cord paralysis and hypothyroidism as presenting symptoms of Williams-Beuren syndrome: a case report.
abstract: Williams-Beuren syndrome is a rare neurodevelopmental disorder caused by deletion of 1.5-1.8Mb genes on chromosome 7q11.23. The syndrome was first described as a triad of supra-valvular aortic stenosis, mental retardation, and distinctive facial features. Our patient was referred due to audible inspiratory stridor when he was seven days old. Following endoscopy he was diagnosed with bilateral vocal cord paralysis and was eventually intubated due to respiratory de-compensation followed by tracheotomy. On further workup he was diagnosed with hypothyroidism. Genetic workup supported the diagnosis of Williams-Beuren syndrome. We report here a case with an unusual clinical presentation.
authors.affiliation: The Department of Pediatrics, Carmel Medical Center, and the Rappaport Faculty of Medicine, Technion-Israel, Institute of Technology, Haifa, Israel.
authors.forename: Ilana
authors.initials: I
authors.lastname: Koren
authors.affiliation: Neonatal Intensive Care Unit, Carmel Medical Center, and the Rappaport Faculty of Medicine, Technion-Israel, Institute of Technology, Haifa, Israel.
authors.forename: Ira
authors.initials: I
authors.lastname: Kessel
authors.affiliation: Neonatal Intensive Care Unit, Carmel Medical Center, and the Rappaport Faculty of Medicine, Technion-Israel, Institute of Technology, Haifa, Israel.
authors.forename: Avi
authors.initials: A
authors.lastname: Rotschild
authors.affiliation: The Department of Otolaryngology, Carmel Medical Center, and the Rappaport Faculty of Medicine, Technion-Israel, Institute of Technology, Haifa, Israel. Electronic address: raanan@clalit.org.il.
authors.forename: Raanan
authors.initials: R
authors.lastname: Cohen-Kerem
mesh_terms: D006801:Humans; D007037:Hypothyroidism / Q000209:etiology*; D007231:Infant, Newborn; D008297:Male; D012135:Respiratory Sounds; D014826:Vocal Cord Paralysis / Q000209:etiology*; D018980:Williams Syndrome / Q000150:complications* / Q000175:diagnosis
keywords: Hypothyroidism; Newborn; Vocal cord paralysis; Williams–Beuren syndrome