Article
[Congenital myotonic dystrophy in a Neonatal Intensive Care Unit: case series].
Archivos argentinos de pediatria - 1 Feb 2014
Domingues Sara, Alves Pereira Clara, Machado Angela, Pereira Sandra, Machado Leonilde, Fraga Carla, Oliveira Abílio, Vale Isabel, Quelhas Ilídio
Abstract excerpt
Steinert myotonic dystrophy is a multisystemic disease, autosomal dominant, with a wide spectrum of severity and clinical manifestations. The most severe form is one that manifests in the neonatal period, called congenital myotonic dystrophy. This condition is distinguished by overall hypotonia at birth and respiratory function compromise. Complications are frequent, mainly psychomotor development delay, growth...
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