¹Department of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo (USP), Bauru, Brazil

Correspondence: Dr S Vendramini, Clinical Genetic, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Rua Silvio Marchione 3-20, CEP 17012-230, SP, Bauru, Brazil. Tel: +55 014 32358022; Fax: +55 014 32347818; E-mail: siulan@centrinho.usp.br

Received 16 August 2006; Revised 2 November 2006; Accepted 21 November 2006; Published online 7 February 2007.

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.