Objective: To report two new patients with cerebrofaciothoracic dysplasia (Pascual-Castroviejo type I syndrome).
Material and methods: We present two boys of 16 months and 9 years of age who were studied because of facial features, costovertebral defects and psychomotor delay.
Results: Both patients had the facial and thoracic phenotype that characterizes this syndrome, associated with corpus callosum hypogenesis. Patient 1 had double kidney and ureter on the left side and the patient 2 a smaller left hand than the right one with anomalies of the first fingers. This second patient had affable behavior, but the psychomotor delay was obvious.
Conclusion: In both patients, some anomalies unreported to date in this syndrome, such as double kidney and ureter (patient 1) and anomalies of fingers on one hand (patient 2) were found.