Athabascan brainstem dysgenesis syndrome

• Published in: American Journal of Medical Genetics
• Main Authors: Holve, Steve, Friedman, Barbara, Hoyme, H. Eugene, Tarby, Theodore J., Johnstone, Sharon J., Erickson, Robert P., Clericuzio, Carol L., Cunniff, Christopher
• Format: Article in Journal/Newspaper
• Language: English
• Published: Wiley 2003
• Subjects: Indian; Athabascan
• Online Access: http://dx.doi.org/10.1002/ajmg.a.20087; https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.20087; https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.20087

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 outflow 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. Published 2003 Wiley‐Liss, Inc.