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PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood.

Chest - 1 Feb 2009

Lee Peilin, Su Yi-Ning, Yu Chong-Jen, Yang Pan-Chyr, Wu Huey-Dong

Abstract excerpt

BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is characterized by compromised chemoreflexes resulting in sleep hypoventilation. We report a Chinese family with paired-like homeobox 2B (PHOX2B) mutation-confirmed CCHS, with a clinical spectrum from newborn to adulthood, to increase awareness of its various manifestations. METHODS: After identifying central hypoventilation in an adult man (index...

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Chromosome Disorders
Homeodomain Proteins
Hypoventilation
Polysomnography
Respiratory Function Tests

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PMID: 19201717
DOI: 10.1378/chest.08-1664

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