ISSN:
1432-1076
Keywords:
Key words Goldenhar
;
Möbius
;
Hypoglossia-hypodactyly
;
Vascular
;
disruption sequences
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract The Möbius, Goldenhar and hypoglossia-hypodactyly anomalies are usually sporadic conditions with a recurrence risk of about 2%. The combination of Goldenhar and one of the two others is rare, whereas the concomitant occurrence of Möbius 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 theory for all the above-mentioned combinations. Whether a preceding blastogenetic alteration is an influencing factor or a disorganization mutation, remains unclear. We describe a 3-year-old girl with bilateral anotia, epidermoid on the right eye, 6th and 7th nerve palsy, hypoglossia, left hypodactyly, and ventricular septal defect. Conclusion We wish to emphasize the aetiological relevance of vascular disruptions in this previously unreported combination of Möbius, Goldenhar and hypoglossia-hypodactyly anomalies. The concurrence of anomalies in this patient represents an association and not a pleiotropic syndrome.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01955267
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