title: [The mother and infant with Steinert's myotonic dystrophy].
abstract: Pregnancy and delivery present a number of risks for the mother suffering from myotonic dystrophy, and for her infant. Most of the time, she does not even know that she is affected by the disease and a carrier of the gene. We review the complications of pregnancy and delivery in myotonic patients, and propose a simple management with specific items for each gestational period. The child of a dystrophic mother has a 50% risk of inheriting the abnormal gene. He may also exhibit a developmental and malformation syndrome called "congenital myotonic dystrophy". From the beginning, he may show respiratory distress, thereafter inability to swallow and severely hypotonia. Later, he may demonstrate mental retardation. Some of the most obvious signs found in neonates in our practice are illustrated. We also add a few tests to the list of those already recommended for these children.
authors.affiliation: Département de gynéco-obstétrique, Hôpital de l'Enfant-Jésus, Québec, Canada.
authors.forename: G
authors.initials: G
authors.lastname: Paris
authors.forename: R
authors.initials: R
authors.lastname: Laframboise
authors.forename: J P
authors.initials: JP
authors.lastname: Bouchard
mesh_terms: D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009223:Myotonic Dystrophy / Q000150:complications* / Q000151:congenital / Q000235:genetics / Q000473:pathology; D011247:Pregnancy; D011248:Pregnancy Complications / Q000473:pathology*
vernacular_title: La mère et l'enfant atteints de dystrophie myotonique de Steinert.