A Case of Athabaskan Brainstem Dysgenesis Syndrome and RSV Respiratory Failure

A Case of Athabaskan Brainstem Dysgenesis Syndrome and RSV Respiratory Failure

Athabaskan Brainstem Dysgenesis Syndrome (ABDS) is a nonlethal, homozygous HOXA1 mutation typically marked by central hypoventilation, sensorineural deafness, horizontal gaze palsy, and developmental delay. In this report, we present a case of a 27-month-old Navajo female with a new diagnosis of ABD...

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Bibliographic Details
Main Authors: Ellsworth T, Hiermandi N, Hu D, Grimaldi LM
Format: Article
Language:English
Published: Arizona Thoracic Society 2020-11-01
Series:Southwest Journal of Pulmonary and Critical Care
Subjects:
athabaskan brainstem dysgenesis syndrome
respiratory failure
hoxa1
mutation
hypoventilation
sensorineural deafness
developmental delay
respiratory syncytial virus
rsv
abds
Online Access:https://www.swjpcc.com/critical-care/2020/11/5/a-case-of-athabaskan-brainstem-dysgenesis-syndrome-and-rsv-r.html

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https://www.swjpcc.com/critical-care/2020/11/5/a-case-of-athabaskan-brainstem-dysgenesis-syndrome-and-rsv-r.html

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