Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature

Abstract

The first and second branchial arches are embryonic primordium that contributes to craniofacial development. Interferences in normal development of these structures result in variable maxillary, mandibular, and ear abnormalities. These anomalies can be isolated or part of some known and unknown conditions, among them, the oculoauriculovertebral spectrum (OAVS). Malformations of the external ear or microtia are mandatory features of the OAVS and occur as an isolated malformation (population frequency of 0.03%), or in association with other anomalies such as mandible hypoplasia, epibulbar dermoids, and spinal vertebral defects. Extreme variability of phenotypic manifestations is the main feature of the OAVS and, developmental anomalies are not restricted to facial structures. Cardiac, pulmonary, renal, skeletal, and central nervous system involvements have been observed in patients presented with this condition. Radial defects, although rare, have been reported. In this study, we report on the clinical aspects of 14 Brazilian patients with first and second branchial arches abnormalities associated with radial defects and we compared these data with those of 26 cases in the literature. We postulate that radial defects associated with OAVS might represent a subset within this spectrum.

Dorsal Radiocarpal Dislocation in a Patient with Goldenhar Syndrome: Case Report

“…It occurs at a population frequency of 0.03 % and is suspected to arise secondary to a defect in blastogenesis, although there is no consensus on its cause [10]. The asymmetric underdevelopment of the external ear, middle ear, mandibular rami, and other facial structures results in a classic hemi-facial microsomia in these patients [1].…”

A rare case of Goldenhar syndrome with radial aplasia

“…It was postulated by Vendramini et al [12] that radial defects associated with GS might represent a subset within this spectrum.…”

“…GS with radial defects characterises a subset within the syndrome, mainly involving the first branchial arch and limb primordium unilaterally or bilaterally [12].…”

A Fetus with Hemifacial Microsomia and Sirenomelia. The Same Mesodermal Defect Spectrum?

“…López-Valdez et al Richieri-Costa, and Guion Almeida. [14] reported 14 unrelated Brazilian patients with these anomalies. They noted that since extreme phenotypic variability is a main characteristic of OAVS and developmental anomalies are not restricted to the facial region, these patterns of anomalies may represent a subtype of OAVS.…”