Orthopaedic rehabilitation in a case of Tay-syndrome

Abstract

This paper reports on the orthopaedic rehabilitation of a patient with Tay-syndrome. Tay-syndrome is a rare monogen-inherited ektodermal dysplastic syndrome with ichtyosis, fragility of the hair and physical and mental retardation. The congenital ichtyosis is ubiquitous. Only the skin on the flexion side of the extremity joints are not involved (orthocerathosis combined with paraceratotic strings). In this case, a young boy developed bilateral subluxation of the hips and was not able to stand or walk freely. Contemporary pre- and neonatal care has prolonged the survival of newborns with severe genodermatoses, including this syndrome. In this case, it has provided the necessity for orthopaedic treatment of the problems caused by osteosclerosis and muscular spasticity.

• Tay-syndrome;Trichothiodystrophy;Hip Subluxation;Operative Treatment;Hip Reconstruction;Rehabilitation