Objective. To verify the frequency and types of congenital heart defects in a sample of patients with oculo-auriculo-vertebral spectrum (OAVS), in order to correlate the presence of these defects with other clinical characteristics and evolution. MethOds. The sample comprised 33 subjects, all attended in the same center, between January 1975 and December 2007. Twenty two of them were male and eleven female with ages ranging from 1 day to 17 years old. All presented normal karyotype by GTG-Banding. A data collection related to their clinical history, physical examination and result of complementary evaluations was performed. Results. Cardiac abnormalities were observed in 13 patients (39.4%). Of these, 5 (38.5%) were conotruncal, tetralogy of Fallot being the main malformation (n=2). Unusual anomalies identified included cor triatriatum and double inlet left ventricle. Significant differences among the clinical characteristics of the group with and without heart defect were only verified in relation to age at first evaluation that was lower in subjects with cardiac malformations. Five patients died, four of them carriers of congenital heart defects. cOnclusiOn. Cardiac malformations, mainly of the conotruncal and septal types, are frequent among patients with OAVS. The frequency found in our study was statistically similar to the one found in the majority of works described in literature, which ranges from 18 to 58%. Congenital heart defects also represent the main cause of death of these subjects. Thus, a cardiac evaluation should always be performed in these patients, especially at an early age.

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia is a rare autosomal dominant disorder. The present report represents the ninth reported case and only the second case involving a female. She had a characteristic pattern of limb anomalies including agenesis of the tibiae and bilateral preaxial polydactyly of the feet, associated with genital hypoplasia. In addition our patient had wormian bones, a lacrimal sac fistula, an ectopic kidney and an anteriorly placed anus, which are findings not previously described in this condition.