Apert Syndrome: Report of a rare congenital malformation

Pak J Med Sci. 2017 May-Jun;33(3):773-775. doi: 10.12669/pjms.333.12878.

Abstract

A rare case of an adult male with malformation of the skull, face, hands and feet called acrocephalosyndactly or Apert syndrome is presented. Its probable cause, features and treatment is discussed. It is a unique case who survived upto the age of 32 years without any operative intervention and adjusted in the society though he has all the stigmas of the above syndrome. We have concluded and made a point that in the adult sufferer, facial deformity is not so important and urgent for the treatment than syndactyly, which handicaps the sufferer in performing the daily routine work.

Keywords: Apert syndrome; Rare congenital anomaly.

Publication types

  • Case Reports