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[斯坦纳特先天性肌强直性营养不良的新生儿型。8例病例的诊断与转归(作者译)]

[Neonatal form of Steinert's congenital dystrophia, myotonica. Diagnosis and outcome in eight cases (author's transl)].

作者信息

Rodríguez-Alarcón J, Linares A, Rúa M J, Prats J M

出版信息

An Esp Pediatr. 1980 Aug;13(8):663-70.

PMID:7436147
Abstract

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.

摘要

本文报告了8例患先天性强直性肌营养不良的婴儿,以及5名存活者的随访结果。在我国,这种疾病常被忽视,因为相关报道很少。我们这组病例的重要发现包括产科并发症发生率增加、新生儿严重受累出现肌张力减退和呼吸窘迫,以及存活者的高死亡率和精神运动障碍。

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