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[塞克尔综合征。一例报告]

[Seckel syndrome. Report of a case].

作者信息

Colli R, Russo F, Bianchi G A

机构信息

Divisione di Pediatria, USSL n. 61, Carate Brianza Milano.

出版信息

Minerva Pediatr. 1995 Mar;47(3):89-91.

PMID:7791718
Abstract

The paper report a case of Seckel's syndrome in a girl aged 7 years and 2 months who was referred to the authors attention due to abdominal colic. Low birth weight together with a significant delay in weight and stature increase, microcephalia with the typical bird head and considerable mental retardation were sufficient to diagnose the syndrome. Interesting analogies were observed with another case of a patient with Seckel's syndrome born to an epileptic mother receiving antiepileptic treatment which was suspended during the second month of gestation. In the case presented here, no drugs were taken during pregnancy although the mother had received antiepilepsy treatment for years.

摘要

该论文报告了一例7岁2个月女孩的塞克尔综合征病例,该女孩因腹部绞痛引起作者注意。低出生体重以及体重和身高增长显著延迟、小头畸形伴典型鸟头外观和严重智力发育迟缓足以诊断该综合征。在另一例塞克尔综合征患者中观察到有趣的相似之处,该患者母亲为癫痫患者,在妊娠第二个月停止服用抗癫痫药物。在本文介绍的病例中,母亲虽多年接受抗癫痫治疗,但孕期未服用任何药物。

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