Characterization of a de novo balanced translocation t (9;18)(p23;q12.2) in a patient with oculoauriculovertebral
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.
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 .
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
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 .
The differential diagnosis includes acrofacial dysostosis, oculoauriculovertebral
spectrum and X-linked dominant maxillofacial dysostosis.