Dental and Medical Problems

Dent Med Probl
Index Copernicus (ICV 2020) – 128.41
MEiN – 70 pts
CiteScore (2021) – 2.0
JCI – 0.5
Average rejection rate (2021) – 81.35%
ISSN 1644-387X (print)
ISSN 2300-9020 (online)
Periodicity – quarterly

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Dental and Medical Problems

2019, vol. 56, nr 4, October-December, p. 427–431

doi: 10.17219/dmp/110234

Publication type: clinical case

Language: English

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Creative Commons BY-NC-ND 3.0 Open Access

Oculo-auriculo-vertebral spectrum with radial defects, a bifid condyle and taurodontism: A case report

Spektrum objawów oczno-uszno-kręgowych z wadami promieniowymi, dwudzielnym kłykciem i taurodontyzmem – opis przypadku

Vela Desai1,D,E,F

1 Jaipur Dental College, India

Abstract

Goldenhar syndrome (GS) is a rare congenital anomaly involving the first and second branchial arches. It is an autosomal dominant genetic disorder in which there is abnormal prenatal development of the head and face leading to the subsequent asymmetry of craniofacial structures. It is generally sporadic, with its incidence ranging from 1:3,500 to 1:5,600 live births and a gender ratio of 3:2 (male:female). Goldenhar syndrome is considered to be a variant of hemifacial microsomia, characterized additionally by vertebral anomalies and epibulbar dermoids. Facio-auricular dysplasias represent a single disorder with great variability of expression, and an isolated ear malformation may represent the mildest expression of the disorder. This report presents a case of the oculo-auriculo-vertebral spectrum (OAVS) with radial defects, a unilateral bifid condyle and taurodontism. The presence of a bifid condyle and taurodontism has not been previously reported in the literature. Whether this is a coincidental or new finding has to be hypothesized and confirmed. The documentation of all such new findings is of utmost importance for updating the existing literature.

Key words

hypoplasia, bifid condyle, hemifacial microsomia, Goldenhar syndrome, taurodontism

Słowa kluczowe

hipoplazja, dwudzielny kłykieć, mikrosomia połowy twarzy, zespół Goldenhara, taurodontyzm

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