外胚层发育不良裂裂综合征

Khooshbu Gayen, Anisha Bag, S. Shirolkar, Rajib Sikdar, S. Mukhopadhyay, S. Sarkar
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引用次数: 0

摘要

电趾-外胚层发育不良-裂(EEC)综合征是一种罕见的遗传性先天性缺陷,其特征是三种疾病,如外胚层发育不良,四肢畸形,唇裂和/或腭裂。我们报告的情况下,3个月大的女婴的临床症状EEC综合征,并提供有价值的信息,为目前的知识,这种综合征。EEC的症状表现出扩展和表达的多样性。由于文献文献的缺乏,早期诊断和管理与该综合征相关的临床表现提出了一个独特的挑战。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Ectrodactyly–ectodermal dysplasia–clefting syndrome
Ectrodactyly–ectodermal dysplasia–clefting (EEC) syndrome is a rare hereditary congenital defect characterized by a triad of disorders such as ectodermal dysplasia, malformed extremities, and cleft lip and/or palate. We report the case of a 3-month-old girl child with clinical signs of EEC syndrome and offer valuable information into current knowledge about this syndrome. The symptoms of EEC display diversity in both extension and expression. Early diagnosis and management of clinical manifestations associated with this syndrome presents a unique challenge due to the paucity of documents in the literature.
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