Cerebrofaciothoracic Dysplasia

Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.

Epidemiology

To date, 13 cases have been reported in the literature.

Clinical description

Dysmorphic features include brachycephaly, hypertelorism, broad nasal bridge, large philtrum, triangular-shaped mouth and micrognathia. There is often synophris and a low hair line on the back. Costovertebral abnormalities are always present: short, bifid or fused ribs, bony bridges joining the posterior arches in some ribs, hemi vertebrae. Intellectual deficit is constant but the severity varies and patients also have cerebral abnormalities: cortical atrophy, hypoplasia of the corpus callosum and cerebellar vermis.

Etiology

It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait.

Antenatal diagnosis

Antenatal diagnosis is possible by ultrasonographic monitoring for cerebral, costal or vertebral malformations.