Characterization of a de novo balanced translocation t (9;18)(p23;q12.2) in a patient with
oculoauriculovertebral spectrum.
An unusual presentation of
oculoauriculovertebral spectrum with a tessier 30 cleft: Report on two cases.
Later on, the terminology,
oculoauriculovertebral (OAV) dysplasia was coined by Gorlin et al.
Reynolds, "
Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients," American Journal of Medical Genetics, vol.
(1963) included vertebral anomalies as signs of the syndrome and suggested the name
oculoauriculovertebral (OAV) dysplasia for this condition [1].
Additionally, 100% of CR fetuses showed normal morphology, whereas 2% of the DRs products depicted limb defects and 13% showed craniofacial malformations sharing characteristics with the
oculoauriculovertebral syndrome as observed in children of diabetic mothers.
A family with dominant
oculoauriculovertebral spectrum.
The first and second branchial arch syndrome results in a wide spectrum of anomalies that encompass diverse, superimposed, and heterogeneous phenotypes within the so-called
oculoauriculovertebral spectrum [1, 2].
A Sindrome de Goldenhar (SG) faz parte de um quadro clinico complexo dos primeiro e segundo arcos branquiais, o qual e comumente conhecido como espectro
oculoauriculovertebral. Caracterizase por assimetria mandibular, ma formacao auricular, alteracoes vertebrais, presenca adicional de dermoides epibulbares [1,2] e, em alguns casos, malformacoes cardiacas [3].
The differential diagnosis includes acrofacial dysostosis,
oculoauriculovertebral spectrum and X-linked dominant maxillofacial dysostosis.