open access

Vol 45, No 1 (2013 Jan-Mar)
Case reports
Published online: 2013-03-19
Submitted: 2013-03-19
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Haddad syndrome

Marzena Ławicka, Joanna Sawicka, Grażyna Bąkowska
DOI: 10.5603/AIT.2013.0006
·
Anaesthesiol Intensive Ther 2013;45(1):30-32.

open access

Vol 45, No 1 (2013 Jan-Mar)
Case reports
Published online: 2013-03-19
Submitted: 2013-03-19

Abstract

Haddad syndrome is a rare genetically conditioned disease. We present a female newborn with congenital central hypoventilation syndrome associated with Hirschprung`s disease. The infant is mechanically ventilated and parentally fed in a home setting. The diagnosis has been confirmed by the presence of 20/26 PHOX2B genetic mutation.

Abstract

Haddad syndrome is a rare genetically conditioned disease. We present a female newborn with congenital central hypoventilation syndrome associated with Hirschprung`s disease. The infant is mechanically ventilated and parentally fed in a home setting. The diagnosis has been confirmed by the presence of 20/26 PHOX2B genetic mutation.
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Keywords

congenital central hypoventilation syndrome, Ondine’s curse, Haddad syndrome, Hirschsprung’s disease, long-term home ventilation, long-term home parenteral nutrition

About this article
Title

Haddad syndrome

Journal

Anaesthesiology Intensive Therapy

Issue

Vol 45, No 1 (2013 Jan-Mar)

Pages

30-32

Published online

2013-03-19

DOI

10.5603/AIT.2013.0006

Bibliographic record

Anaesthesiol Intensive Ther 2013;45(1):30-32.

Keywords

congenital central hypoventilation syndrome
Ondine’s curse
Haddad syndrome
Hirschsprung’s disease
long-term home ventilation
long-term home parenteral nutrition

Authors

Marzena Ławicka
Joanna Sawicka
Grażyna Bąkowska

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