Fryns-Aftimos syndrome with milder clinical manifestations

Clin Dysmorphol. 2009 Apr;18(2):95-97. doi: 10.1097/MCD.0b013e3283218256.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Developmental Disabilities / diagnosis*
  • Facies*
  • Female
  • Hearing Loss, Sensorineural / diagnosis
  • Humans
  • Intellectual Disability / diagnosis*
  • Lissencephaly / diagnosis*
  • Mitral Valve Prolapse / diagnosis
  • Seizures
  • Syndrome
  • Vesico-Ureteral Reflux / diagnosis