Genetic mutation in Hirschsprungs/congenital central hypoventilation syndrome

Genetic mutation in Hirschsprungs/congenital central hypoventilation syndrome

Background: Congenital central hypoventilation syndrome (CCHS) is a disorder of respiratory and autonomic regulation which presents with hypoventilation. In some patients, CCHS is associated with Hirschsprung disease and as such known as Haddad syndrome. Case presentation: A preterm was referred to...

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Bibliographic Details
Main Authors: Christina Schreiner, Elisabeth Ralser, Christine Fauth, Ursula Kiechl-Kohlendorfer, Elke Griesmaier
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:Journal of Pediatric Surgery Case Reports
Subjects:
Case report
Haddad syndrome
Preterm infant
CCHS
Hirschsprung disease
Online Access:http://www.sciencedirect.com/science/article/pii/S221357662100083X

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