[Cerebrofaciothoracic dysplasia (Pascual-Castroviejo type I syndrome): presentation of two new patients].
OBJECTIVE
To report two new patients with cerebrofaciothoracic dysplasia (Pascual-Castroviejo type I syndrome).


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.


CONCLUSIONS
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.
Pascual-Castroviejo
I
I
Servicio de Neurología Pediátrica, Hospital Universitario de La Paz, Madrid. pascas@inves.es
Pascual Pascual
S I
SI
Velázquez-Fragua
R
R
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome