Familial congenital horizontal gaze paralysis and kyphoscoliosis.
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.
Department of Ophthalmology, University of Heidelberg, Germany.
H
H
Steffen
I
I
Rauterberg-Ruland
N
N
Breitbach
M
M
Thomsen
G H
GH
Kolling
D002648:Child; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D007738:Kyphosis / Q000150:complications*; D009679:Nuclear Family; D015835:Ocular Motility Disorders / Q000150:complications / Q000151:congenital; D012600:Scoliosis / Q000150:complications*