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眼外胚层综合征:1例具有广泛临床谱的新病例报告。

Oculoectodermal syndrome: report of a new case with a broad clinical spectrum.

作者信息

Aslan Deniz, Akata Rustu Fikret, Schröder Julia, Happle Rudolf, Moog Ute, Bartsch Oliver

机构信息

Section of Hematology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey.

出版信息

Am J Med Genet A. 2014 Nov;164A(11):2947-51. doi: 10.1002/ajmg.a.36727. Epub 2014 Sep 22.

Abstract

Oculoectodermal syndrome (OMIM 600268) is rare and characterized by aplasia cutis congenita, epibulbar dermoids, and other abnormalities. We report herein on a newly recognized patient with oculoectodermal syndrome, which is the 19th reported patient with OES. The boy aged six years demonstrated a broad clinical spectrum of this condition, including aplasia cutis congenita, epibulbar dermoids, hyperkeratotic papule, mildly enlarged cisterna magna, and an enlarged fluid space in the quadrigeminal cistern, suggesting a cyst. He also manifested anomalies not reported associated with this disorder, including systematized epidermal nevus following Blaschko's lines, hypopigmented skin lesions, and mild digital anomaly.

摘要

眼外胚层综合征(OMIM 600268)较为罕见,其特征为先天性皮肤发育不全、眼球表面皮样囊肿及其他异常。我们在此报告一名新确诊的眼外胚层综合征患者,这是第19例报告的眼外胚层综合征患者。该6岁男孩表现出了这一病症广泛的临床症状,包括先天性皮肤发育不全、眼球表面皮样囊肿、角化过度丘疹、小脑延髓池轻度扩大以及四叠体池内液性腔隙增大提示囊肿形成。他还表现出了与该病症无关的异常情况,包括沿布拉斯科线分布的系统性表皮痣、色素减退性皮肤病变以及轻度手指异常。

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