[MIM 213 980]

(Cerebro-facio-thoracic dysplasia)

Extremely rare. Autosomal recessive inheritance.

Association of:

-        facial dysmorphism: brachycephaly, narrow forehead, hypertelorism, triangular mouth, micrognathia, large philtrum, synophrys, low hairline

-        variable cognitive impairment: cortical atrophy, hypoplasia of the corpus callosum and cerebellar vermis

-  vertebral malformations: hemivertebrae

-  costal malformations:  merged or bifid upper ribs

Anesthetic implications:

risk of difficult intubation, mental retardation; caution in case of neuraxial block: see spine XRay

References : 

-        Rufo-Campos M, Riveros-Huckstadt P, Rodriguez-Criado G, Hernadez-Soto  R. 
Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome). 
Brain & Develop 2004 ; 26 : 209-12.

Updated: November 2018