Wildervanck's syndrome with severe inner ear dysplasia and agenesis of the right internal carotid artery.

Abstract

We describe a case with Wildervanck syndrome (cervico-oculo-acoustic syndrome) comprising Klippel-Feil anomaly, retractio bulbi (Duane syndrome), and congenital sensorineural deafness. An 18-month male baby had a severe inner ear dysplasia, and MRI also showed a complex vascular carotid malformation associated.

• Authors: Mónica Hernando, María Urbasos, Viviana Elizabeth Amarillo, María Teresa Herrera, Victoria García-Peces, Guillermo Plaza
• Journal: International journal of pediatric otorhinolaryngology (Int J Pediatr Otorhinolaryngol) Vol. 78 Issue 4 Pg. 704-6 (Apr 2014) ISSN: 1872-8464 [Electronic] Ireland
• PMID: 24576452 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Topics

• Abnormalities, Multiple (diagnosis)
• Carotid Artery, Internal (abnormalities)
• Ear, Inner (abnormalities)
• Heart Defects, Congenital (diagnosis)
• Heart Septal Defects, Atrial (diagnosis)
• Humans
• Infant
• Lower Extremity Deformities, Congenital (diagnosis)
• Magnetic Resonance Imaging (methods)
• Male
• Rare Diseases
• Risk Assessment
• Tomography, X-Ray Computed (methods)
• Upper Extremity Deformities, Congenital (diagnosis)
• Vascular Malformations (diagnosis)