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Anaesthesiol Intensive Ther ; 45(1): 30-2, 2013.
Article in English | MEDLINE | ID: mdl-23572305

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.


Subject(s)
Hypoventilation/congenital , Sleep Apnea, Central/diagnosis , Female , Homeodomain Proteins/genetics , Humans , Hypoventilation/diagnosis , Hypoventilation/genetics , Hypoventilation/therapy , Infant, Newborn , Mutation , Sleep Apnea, Central/genetics , Sleep Apnea, Central/therapy , Transcription Factors/genetics
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