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Coffin和Siris于1970年首先描述了Coffin-Siri综合征的特征,表现为发育迟缓、张力减低、关节松弛、异常面容、体部多毛及指(趾)和甲发育异常。文献曾报告2例大体病理学异常,但缺少镜检资料。作者报告一例此综合征的神经病理学所见。患儿7个月女婴,出生时体重3.3kg,头围3.5cm,张力减低、面容粗俗、宽鼻梁、两眼距离过远、全身多毛、头发稀疏,第2、3、4指末节指骨发育不全,第5指无末节指骨,两足末节趾骨发育不全、无趾甲。生后9天出现多灶性癫痫发作。8周时尽管头围正常,但无发育。钡剂随每次吞咽而吸入肺内,因此行胃造口术喂养。心脏听诊有房间隔缺损的杂音。瞳孔对光反应正常,但从未追随光源。两眼呈
Coffin and Siris first described the characteristics of Coffin-Siri syndrome in 1970 as manifestations of stunted growth, reduced tension, joint relaxation, abnormal face appearance, body hirsutism and abnormalities in the nail and toe. Literature has reported 2 cases of gross pathology, but the lack of microscopic examination data. The authors report a case of neuropathology seen in this syndrome. Baby 7-month-old girl, weighing 3.3kg at birth, head circumference 3.5cm, reduced tension, vulgar face, wide nose and nose, both eyes are too far, body hairy, sparse hair, the second, Incomplete, the first 5 refers to no phalanx phalanx, bipolar distal phalanges hypoplasia, non-nail. 9 days after birth, multifocal seizures. 8 weeks despite the normal head circumference, but no development. Barium is inhaled into the lungs with each swallow and is therefore given by gastrostomy. Heart auscultation atrial septal defect noise. The pupil responds normally to light, but never follows the light. Two eyes were