A family with autosomal dominant oculo-auriculo-vertebral spectrum

Christiane Tasse, Frank Majewski, Stefan Böhringer, Sven Fischer, Hermann Josef Lüdecke, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek*

*Corresponding author for this work
59 Citations (Scopus)


Oculo-auriculo-vertebral spectrum (MIM 164210) is a term suggested by Gorlin to summarize the different phenotypic expressions of a continuum that has been known as hemifacial microsomia, Goldenhar syndrome, or first and second branchial arch anomalies. The different terms indicate the extremely variable clinical findings, including especially defects of aural, oral and mandibular development. Additionally, cardiac, renal, skeletal and other anomalies occur. The majority of oculo-auriculo-vertebral spectrum cases are sporadic; nevertheless, several families have been reported with proof of both autosomal dominant and autosomal recessive inheritance. We describe a family with transmission of oculo-auriculo-vertebral spectrum from a mother to her two daughters indicating an autosomal dominant mode of inheritance. Our literature review reveals that patients with autosomal dominant inheritance of oculo-auriculo-vertebral spectrum are more often bilaterally affected than patients with sporadic occurrence of oculo-auriculo-vertebral spectrum. In addition, hearing loss, absent or narrow external auditory canal, anomalies of the mouth and epibulbar dermoids seem to occur less frequently in patients with autosomal dominant oculo-auriculo-vertebral spectrum compared with sporadic oculo-auriculo-vertebral spectrum.

Original languageEnglish
JournalClinical Dysmorphology
Issue number1
Pages (from-to)1-7
Number of pages7
Publication statusPublished - 01.2007

Research Areas and Centers

  • Research Area: Medical Genetics


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