Cerebrofaciothoracic dysplasia. Pascual Castroviejo syndrome.
Incidence
Transmitted as an autosomal recessive trait.
Clinical Characteristics
A rare syndrome of multiple abnormalities of the central nervous system, craniofacial dysmorphism, delayed physical and mental development, and multiple thoracic and other abnormalities.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
It is a clinical diagnosis.