Abstract
Introduction: The oculo-auriculo-vertebral syndrome is a complex disease of the head and neck. Aim: The purpose of this study was to look for facial asymmetry, measuring both sides of the mandible and external ear in the parents of these patients in a clinical way, to see if it could be considered as a minor manifestation of the disease. Patients and Methods: A clinical, observational study was done with 50 trios and their parents’ controls, at the Instituto Nacional de Rehabilitacion LGII in 2019, from January to May. Mandible and ear measurements were done. Results: All of our patients had microtia and facial asymmetry, and in 17 cases, other anomalies. We compared both sides of the mandible in the patients’ parents and in the parents’ controls. The results showed differences only in the fathers, and in the comparison with the controls, we found statistical differences only in women, family and non-family cases. The ears did not show any differences. Discussion: It is very interesting that we found differences in the measurements of the mandible of the patients’ mothers and their controls; in the mothers the mandible was bigger than in the controls, this probably means that the development of the cranial structures is modified by some genetic variants. No differences were found in the measurements of the ears. Conclusion: It is very difficult to know exactly if the differences we found are important or not. The clinical measurements could be a good option to establish if the parents have minor manifestations that could explain some heritability.
Highlights
The oculo-auriculo-vertebral syndrome is a complex disease of the head and neck
Aim: The purpose of this study was to look for facial asymmetry, measuring both sides of the mandible and external ear in the parents of these patients in a clinical way, to see if it could be considered as a minor manifestation of the disease
The clinical measurements could be a good option to establish if the parents have minor manifestations that could explain some heritability
Summary
Aim: The purpose of this study was to look for facial asymmetry, measuring both sides of the mandible and external ear in the parents of these patients in a clinical way, to see if it could be considered as a minor manifestation of the disease. The oculo-auriculo-vertebral or facio-auriculo-vertebral syndrome (OAV/FAV), is a complex disease that involves the embryological development of head and neck dependent on the first and second branchial or pharyngeal arches and with a wide spectrum of anomalies [1] The frequency of this entity was calculated by Poswillo around 1/4000 LNB in 1973 [2]; after him other frequencies have been mentioned in different populations: Grabb 1/5600, Stoll 1/19,500, Melnick 1/26,500 [3] [4]. Beleza A et al in 2014 mentioned that the multisystemic affectation is not frequent, present only in 10% of the cases; we found in a previous study, other malformations besides microtia and hemifacial microsomia, in 38.25% [8] [9]
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