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.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Steffen H,Rauterberg-Ruland I,Breitbach N,Thomsen M,Kolling GHdoi
10.1055/s-2007-973565subject
Has Abstractpub_date
1998-08-01 00:00:00pages
220-2issue
4eissn
0174-304Xissn
1439-1899journal_volume
29pub_type
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