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Fryns- Aftimos Syndrome A Case Report and Literature Review

Fryns-Aftimos Syndrome is a rare autosomal dominant disorder characterized by craniofacial signs, anterior neuronal migration disorder (pachygyria, lissencephaly), skeletal deformities and mental retardation. We describe a five-year-old boy with abnormal facial features (hypertelorism, ptosis, high arched palate), skel- etal problems (short stature, short fingers, flat feet) and mild intellectual disability. Parents are not relatives and there is no similar case in family. Based on positive clinical findings Fryns-Aftimos syndrome was suspected and genetic testing of ACTB gene was performed identifying a heterozygous c.220G>A mutation. Both par-