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Case Report

Hemifacial Microsomia – An Intermediate Form in Oculo-Auriculo-Vertebral Disorder Spectrum

Nishad Patil , Nishad Patil , Sunil Mhaske

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Indian Journal of Genetics and Molecular Research 3(1):p 15-23, January - June 2014. | DOI:

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Abstract

Oculo-auriculo-vertebral spectrum (OAVS) refers to three rare disorders that many clinicians believe to be intimately related to one another and which represent the range of severity of the same disorder. These disorders are apparent at birth (congenital). As the name suggests, they involve malformations of the eyes, ears and spine. Oculo-auriculo-vertebral disorder (OAVD) represents the mildest form of the disorder, while Goldenhar syndrome presents frequently as the most severe form. Hemifacial microsomia appears to be an intermediate form. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. However, such abnormalities tend to involve the cheekbones, jaw, mouth, ears, eyes, and/or bones of the spinal column (vertebrae). Although, in most cases (about 60%), such malformations affect one side of the body (unilateral), approximately 10 to 33 percent of affected individuals have such malformations on both sides of the body (bilateral), with one side typically more affected than the other (asymmetry). In the majority of such cases, the right side is more severely affected than the left. In most cases OAVS appears to occur randomly, with no apparent cause (sporadic). However, in some cases, family histories suggest autosomal dominant or recessive inheritance. In addition, some researchers suggest that the disorder may be caused by the interaction of many genes, possibly in combination with environmental factors (multifactorial inheritance). Our case is part of this spectrum having facial asymmetry (microsomia) with vertebral anomalies.

Keywords: Oculo-auriculo-vertebral spectrum (OAVS); Goldenhar syndrome; Hemifacial microsomia; Preauricular Tags; Tessier facial cleft; Trachiomalacia; Hypospadias with chordee. 

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