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Archivos de Pediatría del Uruguay

On-line version ISSN 1688-1249

Abstract

MANE GARZON, Fernando  and  RAGGIO, Víctor. Maldición de Ondina: presentación de un caso clínico. Arch. Pediatr. Urug. [online]. 2007, vol.78, n.1, pp.29-34. ISSN 1688-1249.

Central, congenital, idiopathic hypoventilation syndrome known as ¨Ondine´s Curse¨, is a non frequent disease characterized by an abnormal ventilation control in the absence of pulmonary, neuromuscular, neurological or cardiac disease. Multiple genes are associated with this disease as well as to other related phenotypes such as Hirschsprung disease. A case showing its treatment difficulties is presented. Genetic aspects, etiology and differential diagnosis are exposed.

Keywords :  SLEEP APNEA, CENTRAL;  HYPOVENTILATION; NEURAL CREST;  HIRSCHSPRUNG DISEASE;  SLEEP APNEA SYNDROMES;  DIAGNOSIS, DIFFERENTIAL; GENETICS.

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