Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome)

We report another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome) characterized by mental retardation and characteristic facies: narrow forehead, synophris, hypertelorism, broad nasal bridge, long philtrum, micrognathia, triangular-shaped mouth and low posterior hairline, and also brachycephaly, calcified clinoid ligaments, and upper rib deformities. Although the severity of mental retardation within the syndrome varies, the reported case shows not only a severe degree, but also cerebral malformations not reported in any of the previous cases of cerebro-facio-thoracic syndrome. These include cortical–subcortical atrophy with hypoplasia of the corpus callosum, and of the cerebellar vermis. We also discuss the inheritance pattern and differential diagnosis, comparing this phenotype to other similar dysmorphic syndromes.