A rare case of Goldenhar syndrome: oculo-auriculo-vertebral spectrum
نویسندگان
چکیده
منابع مشابه
Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
UNLABELLED Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of the first branchial arches. PURPOSE To investigate the ear abnormalities of a sample of patients with OAVS. MATERIALS AND METHODS The sample consisted of 12 patients with OAVS seen at the Clinical Genetics Unit, UFCSPA/CHSCPA. The study included only patients who underwent mastoid com...
متن کاملCentral nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
OBJECTIVE To describe the central nervous system (CNS) alterations present in a sample of oculo-auriculo-vertebral spectrum (OAVS) patients, trying to correlate them with other clinical features. METHOD Seventeen patients with diagnosis of OAVS were evaluated. All presented radiological evaluation of the CNS, normal GTG-Banding karyotype and clinical features involving at least two from the f...
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 کاملGoldenhar syndrome (oculo-auriculo-vertebral dysplasia) in a twin new born baby.
Fhe Oculo-auriculo-vertebral dyspla~ia, described for the first time by Goldenhar 1 is a disorder affecting the structures which develop from I and II branchial archs. It is characterised by epibulbar dermoid cyst and preauricular skin appendages with or without vertebral defects. 2 This syndrome has always been reported in single born babies from India 2-4 but in western literature 3 cases hav...
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...
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ژورنال
عنوان ژورنال: International Journal of Contemporary Pediatrics
سال: 2019
ISSN: 2349-3291,2349-3283
DOI: 10.18203/2349-3291.ijcp20192052