Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update
نویسندگان
چکیده
منابع مشابه
Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update.
Oculo-auriculo-vertebral spectrum (OAVS, OMIM 164 210) is a developmental disorder primarily involving structures derived from the first and second pharyngeal arches during embryogenesis. The phenotype is clinically heterogeneous and is typically characterised by abnormal development of the ear, mandible anomalies and defects of the vertebral column. OAVS may occur as a multiple congenital abno...
متن کاملOculo-auriculo-vertebral (Goldenhar's) syndrome.
Goldenhar's syndrome (Goldenhar, I952) consists of epibulbar dermoids or lipodermoids, auricular appendages, pretragal blind fistulas, and vertebral anomalies. A number of other deformities associated with this condition have been summarized by Bowen, Collum, and Rees (I97I). Our case is presented because of the presence of an aberrant salivary gland in the nose. This complication has not been ...
متن کامل[Oculo-auriculo-vertebral spectrum in patients with congenital heart defects].
BACKGROUND there have been few studies evaluating the frequency of oculo-auriculo-vertebral spectrum (OAVS) in patients with congenital heart defects (CHDs). OBJECTIVE to verify the frequency of OAVS in a sample of patients with major heart malformations. METHODS we evaluated a prospective cohort of patients with CHD admitted in a pediatric cardiac intensive care unit (ICU) in Brazil. The d...
متن کاملAudiological Findings in Patients with Oculo-Auriculo-Vertebral Spectrum
Introduction Oculo-auriculo-vertebral spectrum, also referred to as Goldenhar syndrome, is a condition characterized by alterations involving the development of the structures of the first and second branchial arches. The abnormalities primarily affect the face, the eyes, the spine, and the ears, and the auricular abnormalities are associated with possible hearing loss. Objective To analyze the...
متن کاملCranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum.
BACKGROUND AND PURPOSE Cranial nerve abnormalities might be observed in hemifacial microsomia and microtia (oculo-auriculo-vertebral spectrum), but the rate, features, and relationship with functional impairment or phenotype severity have not yet been defined. This study aimed at investigating absence/asymmetry, abnormal origin, morphology and course of cranial nerves, and presence/asymmetry of...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2014
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2014-102476