FAMILIAL CONGENITAL HORIZONTAL GAZE PARALYSIS AND KYPHOSCOLIOSIS

Citation
H. Steffen et al., FAMILIAL CONGENITAL HORIZONTAL GAZE PARALYSIS AND KYPHOSCOLIOSIS, Neuropediatrics, 29(4), 1998, pp. 220-222
Citations number
14
Categorie Soggetti
Pediatrics,"Clinical Neurology
Journal title
ISSN journal
0174304X
Volume
29
Issue
4
Year of publication
1998
Pages
220 - 222
Database
ISI
SICI code
0174-304X(1998)29:4<220:FCHGPA>2.0.ZU;2-Q
Abstract
Congenital horizontal gaze paralysis is a rare disorder which may be a ssociated with severe scoliosis of early onset. We present the clinica l findings of two sisters with this syndrome. The additional finding o f a unique pericentric inversion of chromosome 12 is considered to be incidental. Every child with congenital horizontal gaze paralysis shou ld be evaluated for a possibly associated scoliosis. If present, a dia gnosis of this presumably autosomal recessive syndrome can be made wit h appropriate treatment and genetic counseling.