Thrombophilia gene mutations in oculoauriculovertebral spectrum.

Abstract excerpt

Oculoauriculovertebral spectrum or Goldenhar syndrome is a phenotypically and probably genetically heterogeneous disorder characterized by hemifacial microsomia (unilateral ear abnormalities and ipsilateral mandibular hypoplasia) as well as vertebral anomalies and epibulbar dermoid/lipodermoids. Although most cases of the Goldenhar syndrome are sporadic, both autosomal recessive and dominant inheritance have been...

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