[Neonatal form of Steinert's congenital dystrophia, myotonica. Diagnosis and outcome in eight cases (author's transl)].
Eight infants with neonatal form of dystrophia myotonica, and the outcome in the follow-up of five survivors, are reported. The disease is frequently overlooked in our country, since rare reports are available. Important findings of our series were increased incidence of obstetric complications and severe neonatal affectation with hypotonia and respiratory distress as well as high mortality and psychomotor handicaps in survivors.
D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000150:complications / Q000175:diagnosis*; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D009223:Myotonic Dystrophy / Q000150:complications / Q000151:congenital / Q000175:diagnosis*; D011247:Pregnancy; D011248:Pregnancy Complications; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology
Forma neonatal de la distrofia miotónica de Steinert. Diagnóstico y evolución en ocho observaciones.