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Neuropediatrics 1998; 29(4): 220-222
DOI: 10.1055/s-2007-973565
Short communications

© Hippokrates Verlag GmbH Stuttgart

Familial Congenital Horizontal Gaze Paralysis and Kyphoscoliosis

H. Steffen1 , I. Rauterberg-Ruland2 , N. Breitbach2 , M. Thomsen3 , G. H. Kolling1
  • 1Departments of Ophthalmology University of Heidelberg, Germany
  • 2Departments of Pediatrics University of Heidelberg, Germany
  • 3Departments of Orthopedics, University of Heidelberg, Germany
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Publication History

Publication Date:
12 March 2007 (online)

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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.

Key words

Congenital horizontal gaze paralysis - Scoliosis