Congenital horizontal gaze paralysis is a rare disorder which may be associated with
severe scoliosis of early onset. We present the clinical findings of two sisters with
this syndrome. The additional finding of a unique pericentric inversion of chromosome
12 is considered to be incidental. Every child with congenital horizontal gaze paralysis
should be evaluated for a possibly associated scoliosis. If present, a diagnosis of
this presumably autosomal recessive syndrome can be made with appropriate treatment
and genetic counseling.
Congenital horizontal gaze paralysis - Scoliosis