A family with autosomal dominant oculo-auriculo-vertebral spectrum.
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.
Tasse
Christiane
C
Institute of Human Genetics, University Clinic Essen, Essen Institute of Human Genetics and Anthropology, University of Düsseldorf, Düsseldorf Institute of Human Genetics, University Clinic Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.
Majewski
Frank
F
Böhringer
Stefan
S
Fischer
Sven
S
Lüdecke
Hermann-Josef
HJ
Gillessen-Kaesbach
Gabriele
G
Wieczorek
Dagmar
D
D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004424:Ear Canal / Q000002:abnormalities* / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics*; D005190:Family; D005260:Female; D005799:Genes, Dominant; D006053:Goldenhar Syndrome / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009056:Mouth Abnormalities / Q000235:genetics* / Q000473:pathology; D010375:Pedigree