GOLDENHAR, MOBIUS AND HYPOGLOSSIA-HYPODACTYLY ANOMALIES IN A SYNDROMEOR ASSOCIATION

The Mobius, Goldenhar and hypoglossia-hypodactyly anomalies are usuall y sporadic conditions with a recurrence risk of about 2%. The combinat ion of Goldenhar and one of the two others is rare, whereas the concom itant occurrence of Mobius and hypoglossia-hypodactyly, and/or Poland, and/or Klippel-Feil anomaly is well known. Pathogenetically, vascular disruptions around the 4th embryonic week have been hypothesized. In vivo and pathological studies as well as animal models support this th eory for all the above-mentioned combinations. Whether a preceding bla stogenetic alteration is an influencing factor or a disorganization mu tation, remains unclear. We describe a 3-year-old girl with bilateral anotia, epidermoid on the right eye, 6th and 7th nerve palsy, hypoglos sia, left hypodactyly, and ventricular septal defect. Conclusion We wi sh to emphasize the aetiological relevance of vascular disruptions in this previously unreported combination of Mobius, Goldenhar and hypogl ossia-hypodactyly anomalies. The concurrence anomalies in this patient represents an association and not a pleiotropic syndrome.