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一名患有胸骨畸形/血管发育异常综合征的女孩。

A girl with sternal malformation/vascular dysplasia association.

作者信息

Lee Na Yong, Cho Hye Kyung, Kim Kyung-Hyo, Park Eun Ae

机构信息

Department of Pediatrics, Ewha Womans University School of Medicine, Seoul, Korea.

出版信息

Korean J Pediatr. 2013 Mar;56(3):135-8. doi: 10.3345/kjp.2013.56.3.135. Epub 2013 Mar 18.

Abstract

Sternal malformation/vascular dysplasia association is a rare congenital dysmorphology, which has not yet been reported in Korea. Its typical clinical features include a sternal cleft covered with atrophic skin, a median abdominal raphe extending from the sternal defect to the umbilicus, and cutaneous craniofacial hemangiomata. We report a case of a full-term newborn who presented with no anomalies at birth, except for a skin defect over the sternum and a supraumbilical raphe. Multiple hemangiomas appeared subsequently on her chin and upper chest wall, and respiratory distress due to subglottic hemangioma developed during the first 2 months of life. Her symptoms were controlled with oral prednisolone administration. No respiratory distress have recurred during the 3-year follow-up period.

摘要

胸骨畸形/血管发育异常综合征是一种罕见的先天性畸形,在韩国尚未有相关报道。其典型临床特征包括覆盖萎缩皮肤的胸骨裂、从胸骨缺损延伸至脐部的腹部正中缝以及皮肤颅面部血管瘤。我们报告一例足月新生儿,出生时除胸骨皮肤缺损和脐上缝外无其他异常。随后其下巴和上胸壁出现多个血管瘤,出生后前2个月因声门下血管瘤出现呼吸窘迫。通过口服泼尼松龙控制了她的症状。在3年随访期内未再出现呼吸窘迫。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7ad/3611048/b89fe9c9a84a/kjped-56-135-g001.jpg

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