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.
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.
Authors: Davut Pehlivan; Ender Karaca; Hatip Aydin; Christine R Beck; Tomasz Gambin; Donna M Muzny; B Bilge Geckinli; Ali Karaman; Shalini N Jhangiani; Richard A Gibbs; James R Lupski Journal: Eur J Hum Genet Date: 2014-01-15 Impact factor: 4.246