en
Scientific article
Case report
English

Familial congenital horizontal gaze paralysis and kyphoscoliosis

Published inNeuropediatrics, vol. 29, no. 4, p. 220-222
Publication date1998
Abstract

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.

Keywords
  • Child
  • Family Health
  • Female
  • Humans
  • Infant
  • Kyphosis/complications
  • Nuclear Family
  • Ocular Motility Disorders/complications/congenital
  • Scoliosis/complications
Affiliation Not a UNIGE publication
Citation (ISO format)
STEFFEN, Heimo et al. Familial congenital horizontal gaze paralysis and kyphoscoliosis. In: Neuropediatrics, 1998, vol. 29, n° 4, p. 220–222. doi: 10.1055/s-2007-973565
Main files (1)
Article (Published version)
accessLevelRestricted
Identifiers
ISSN of the journal0174-304X
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