Oculoauriculovertebral spectrum with a full range of severe clinical manifestations – Case report

Abstract

Oculoauriculovertebral spectrum (OAVS) is a rare congenital malformation consisting of epibulbar dermoids, lid colobomas, auricular deformities, hypoplasia of the soft and bony tissues of the face, associated oral deformities and vertebral anomalies. This report presents a child with a choroid of the right eye, coloboma of the upper eyelid, epibulbar dermoid of the left eye, mandibular hypoplasia, facial asymmetry, bilateral complete cleft lip and palate, hypoplasia of the left alar cartilage, appendage of the left nose, butterfly vertebral defects of Th-1, Th-2 and abnormality of rib XI. Widened sulci of frontal and parietal lobes, bilateral white matter density decrease and calcifications of falx cerebelli were noted. Axial hypotony and delayed psycho-motor development were apparent. This rare case presents a range of severe clinical manifestations of oculoauriculovertebral spectrum. Despite a normal cervical vertebral column, tracheostenosis was present. It caused difficulties in tracheal intubation, creating the need for a tracheostomy, and death after a failed attempt at decannulation. This case indicates that in patients with clinical manifestations including cerebral anomalies, a risk of respiratory insufficiency should be always taken under consideration, when planning surgery.