Fryns-Aftimos syndrome with milder clinical manifestations.
Fryns-Aftimos syndrome (MIM 606155) is a rare condition characterised by pachygyria, severe mental retardation, epilepsy and characteristic facies. We report a patient who, unlike previously reported cases, remains seizure free with relatively mild developmental delay and facial phenotype.
Hayes
Ian M
IM
Northern Regional Genetics Service, Auckland Hospital Department of Pediatric Radiology, Starship Hospital, Auckland, New Zealand.
Perry
David
D
Aftimos
Salim
S
D002648:Child; D002658:Developmental Disabilities / Q000175:diagnosis*; D019066:Facies; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D054082:Lissencephaly / Q000175:diagnosis*; D008945:Mitral Valve Prolapse / Q000175:diagnosis; D012640:Seizures; D013577:Syndrome; D014718:Vesico-Ureteral Reflux / Q000175:diagnosis