Article ID Journal Published Year Pages File Type
8813658 Perinatología y Reproducción Humana 2016 4 Pages PDF
Abstract
Central congenital hypoventilation syndrome, also known as Ondine's Curse, is a rare disease characterised by abnormal ventilation control in the absence of pulmonary, neuromuscular, neurological or cardiac disease. In twenty percent of the cases this condition is associated with Hirschsprung disease (called Haddad syndrome), and other altered development of neural crest-derived structures and/or tumours of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). A case is presented, showing its clinical and genetic aspects, aetiology and treatment of a newborn with central hypoventilation and Hirschsprung disease.
Related Topics
Health Sciences Medicine and Dentistry Perinatology, Pediatrics and Child Health
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