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 fiveyearold boy with abnormal facial features (hypertelorism, ptosis, high arched palate), skeletal 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 FrynsAftimos syndrome was suspected and genetic testing of ACTB gene was performed identifying a heterozygous c.220G>A mutation.  Both parents were checked and did not harbor this mutation.