Oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome is due to an abnormal
development of first and second branchial arches derivatives during embryogenesis and is …

Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet
its genetic etiology remains unknown. We perform whole-exome or genome sequencing of …

Background: Microtia is a congenital malformation of the outer ears caused by improper
embryonic development. The origin of microtia and causes of its variations remain unknown …

Background Oculo-auriculo-vertebral spectrum (OAVS) is the second most common cause
of head and neck malformations in children after orofacial clefts. OAVS is clinically …

Goldenhar syndrome or oculo-auriculo-vertebral spectrum (OAVS) is a complex
developmental disorder characterized by asymmetric ear anomalies, hemifacial microsomia …

Microtia is a congenital malformation that encompasses mild hypoplasia to complete loss of
the external ear, or pinna. Although the contribution of genetic variation and environmental …

Objective To report associated congenital anomalies with unexplained craniofacial
microsomia (CFM) and the phenotypic overlap with other recurrent constellations of …

The clinical diagnosis of oculo-auriculo-vertebral spectrum (OAVS) is established when
microtia is present in association with hemifacial hypoplasia (HH) and/or ocular, vertebral …

Objective Oculoauriculovertebral spectrum (OAVS) is a genetically and clinically
heterogeneous disorder that occurs due to a developmental field defect of the first and …

Hemifacial microsomia (HFM) is the second most common congenital craniofacial disease
and has a wide spectrum of symptoms. The classic diagnostic criterion for hemifacial …