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Athabascan brainstem dysgenesis syndrome.

https://arctichealth.org/en/permalink/ahliterature30875
Source
Am J Med Genet A. 2003 Jul 15;120(2):169-73
Publication Type
Article
Date
Jul-15-2003
Author
Steve Holve
Barbara Friedman
H Eugene Hoyme
Theodore J Tarby
Sharon J Johnstone
Robert P Erickson
Carol L Clericuzio
Christopher Cunniff
Author Affiliation
Tuba City Indian Medical Center, Tuba City, Arizona 86045, USA. sholve@tcimc.ihs.gov
Source
Am J Med Genet A. 2003 Jul 15;120(2):169-73
Date
Jul-15-2003
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - diagnosis - genetics
Brain Stem - abnormalities
Child
Deafness - complications - genetics
Developmental Disabilities - complications - genetics
Disease Progression
Fatal Outcome
Female
Hearing Loss, Sensorineural - complications - genetics
Humans
Hypoventilation - complications - genetics
Indians, North American
Male
Mobius Syndrome - complications - genetics
Ocular Motility Disorders - complications - genetics
Syndrome
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.
PubMed ID
12833395 View in PubMed
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Is tooth agenesis related to brainstem anomalies in myelomeningocele patients with Chiari II malformations?

https://arctichealth.org/en/permalink/ahliterature31205
Source
Acta Odontol Scand. 2002 Dec;60(6):337-40
Publication Type
Article
Date
Dec-2002
Author
Annelie Linderström
Lars Samuelsson
Jan Huggare
Author Affiliation
Public Dental Health Services (Folktandvården), County Council of Stockholm, Sweden.
Source
Acta Odontol Scand. 2002 Dec;60(6):337-40
Date
Dec-2002
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Anodontia - etiology
Arnold-Chiari Malformation - complications
Bicuspid - abnormalities
Brain Stem - abnormalities
Child
Comparative Study
Female
Follow-Up Studies
Humans
Male
Meningomyelocele - complications
Odontogenesis
Retrospective Studies
Sweden
Tooth Germ - embryology
Trigeminal Nuclei - abnormalities
Abstract
Defects in the prenatal development of the brainstem can result in cranial nerve deficiencies. As the development of tooth germ is dependent on n. trigeminus, which originates from the brainstem, the hypothesis underlying this study was that anomalies of the brainstem would lead to an increased prevalence of tooth agenesis. Twenty-three patients (13 F and 10 M, age range 6-37 years) were studied, all with myclomeningocele and brainstem anomalies (Chiari II). They were examined retrospectively from the data in journals and dental radiographs and compared to available data on the prevalence of tooth agenesis in the Swedish population. Our hypothesis was rejected, since there was insignificant difference in the frequency of agenesis in our material (8.7%) compared with that of the Swedish population (7.4%).
PubMed ID
12512882 View in PubMed
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Southwestern Athabaskan (Navajo and Apache) genetic diseases.

https://arctichealth.org/en/permalink/ahliterature195294
Source
Genet Med. 1999 May-Jun;1(4):151-7
Publication Type
Article
Author
R P Erickson
Author Affiliation
Steele Memorial Children's Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson, USA. erickson@peds.arizona.edu
Source
Genet Med. 1999 May-Jun;1(4):151-7
Language
English
Publication Type
Article
Keywords
Brain Stem - abnormalities
Canada
Evolution, Molecular
Genes, Recessive
Genetic Diseases, Inborn - epidemiology - ethnology
Genetic Linkage
Genetic Predisposition to Disease
Humans
Indians, North American
Severe Combined Immunodeficiency - epidemiology - genetics
Skin Diseases - epidemiology - genetics
United States
Abstract
Four apparently unique disorders are known among the Southwestern Athabasan Amerindians, i.e., the Navajo and Apache; they are Athabaskan severe combined immunodeficiency, Navajo neuropathy, Navajo poikiloderma, and Athabaskan brainstem dysgenesis. This study reviews background information on Athabaskan groups and clinical descriptions of these recessive disorders.
The major clinical findings of these four disorders are reviewed. In addition, the findings of epidemiological surveys are included where available.
Although the importance of genetic bottlenecks in increasing the frequency of rare, sometimes unique, autosomal recessive disorders is known for a number of populations, similar phenomena among Native Americans seem to be less well known.
As many more Native Americans move off the Reservation, the awareness of susceptibility to particular genetic diseases needs to be more widely disseminated.
Notes
Comment In: Genet Med. 1999 Sep-Oct;1(6):30511258633
PubMed ID
11258351 View in PubMed
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