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两例先天性皮肤发育不全和眼外胚层综合征患者的脉络膜钙化

Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome.

作者信息

Kalavar Meghana, Echegaray Jose J, Ashkenazy Noy, McKeown Craig, Berrocal Audina M

机构信息

Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami, Florida, USA.

出版信息

Ophthalmic Genet. 2022 Apr;43(2):258-261. doi: 10.1080/13816810.2021.1998552. Epub 2021 Dec 13.

Abstract

PURPOSE

To describe choroidal calcifications as an ophthalmic feature in aplasia cutis congenita (ACC) with oculoectodermal syndrome (OES).

OBSERVATIONS

Two cases of ACC/OES with characteristic echographic evidence of choroidal calcifications are described.

CONCLUSIONS AND IMPORTANCE

The ophthalmic manifestations of ACC/OES may be expanded to include choroidal calcifications. The presence of a choroidal calcification with B-scan ultrasound in a case suspicious for ACC/OES may facilitate a more timely diagnosis and inform future follow-up regimens to monitor ophthalmic and systemic manifestations of this disease.

摘要

目的

描述脉络膜钙化作为先天性皮肤发育不全(ACC)合并眼外胚层综合征(OES)的一种眼科特征。

观察结果

描述了2例具有脉络膜钙化特征性超声证据的ACC/OES病例。

结论与意义

ACC/OES的眼科表现可能扩展至包括脉络膜钙化。在疑似ACC/OES的病例中,B超检查发现脉络膜钙化可能有助于更及时地诊断,并为监测该疾病的眼科和全身表现的未来随访方案提供依据。

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