FG Syndrome detected in a Primary Care Centre

FG Syndrome was first described by Opitz and Kaveggia in 1974, it is a sex linked recessive disorder. Its main features are mental retardation, macrocephaly, facial dysmorphism, constipation with or without anal malformations and with a peculiar personality. Diagnosis, of outstanding importance in order to establish the genetic counselling, is based on dysmorphism associated to hypotonia. We describe the physical, bioanalitical and neuroradiological findings of a patient suffering from this syndrome.