Athabascan brainstem dysgenesis syndrome

Steve Holve, Barbara Friedman, H. Eugene Hoyme, Theodore J. Tarby, Sharon J. Johnstone, Robert P. Erickson, Carol L. Clericuzio, Christopher Cunniff

Research output: Contribution to journalArticle

48 Scopus citations

Abstract

We report a new disorder with diverse neurological problems resulting from abnormal brainstem function. Consistent features of this disorder, which we propose should be called the Atabascan brainstem dysgenesis syndrome, include horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Other features seen in some patients include swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac out-flow tract anomalies. All affected children described are of Athabascan Indian heritage, with eight children from the Navajo tribe and two patients who are of Apache background. The disorder can be distinguished from the Moebius syndrome by the pattern of central nervous system findings, especially the sensorineural deafness, horizontal gaze palsy, and central hypoventilation. Recognition of children with some features of Athabascan brainstem dysgenesis syndrome should prompt investigation for other related abnormalities.

Original languageEnglish (US)
Pages (from-to)169-173
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume120 A
Issue number2
DOIs
StatePublished - Jul 15 2003

Keywords

  • Brainstem dysgenesis
  • Central hypoventilation
  • Deafness
  • Genetics
  • Horizontal gaze palsy
  • Moebius syndrome
  • Native Americans

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Holve, S., Friedman, B., Hoyme, H. E., Tarby, T. J., Johnstone, S. J., Erickson, R. P., Clericuzio, C. L., & Cunniff, C. (2003). Athabascan brainstem dysgenesis syndrome. American Journal of Medical Genetics, 120 A(2), 169-173. https://doi.org/10.1002/ajmg.a.20087