title: ["Genetic emergencies" in a pediatric intensive care service].
abstract: Case histories from the pediatric reanimation department (intubated children of 0 to 15) and neonatology of Renne's hospital are reviewed for the years 1987 and 1988. Among 1.555 admissions (486 in reanimation, 1069 in neonatology), 63, that is 4%, concerned the clinical geneticist. The distribution may be done in 32 malformations and genetic syndromes, 8 chromosomal defects, 6 neuro-muscular diseases, 6 metabolic diseases, 3 cystic fibrosis, 3 spina bifida, 5 varied diseases. The advice of the genetic counsellor was requested 8 times for an urgent case, and to arrive at a decision about a reanimation, 7 times before the death of a patient for the management of diagnostic techniques: biopsy, blood or urines sent to a specialized center.
authors.affiliation: Service de Pédiatrie-génétique médicale, CHU de Rennes.
authors.forename: S
authors.initials: S
authors.lastname: Odent
authors.forename: P
authors.initials: P
authors.lastname: Betremieux
authors.forename: G
authors.initials: G
authors.lastname: Defawe
authors.forename: C
authors.initials: C
authors.lastname: Lefrançois
authors.forename: B
authors.initials: B
authors.lastname: Le Marec
mesh_terms: D004636:Emergency Service, Hospital; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases; D012189:Retrospective Studies
vernacular_title: Les "urgences génétiques" dans un service de soins intensifs pédiatriques.