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超越皮埃尔·罗宾序列。

Beyond Pierre Robin sequence.

作者信息

Prows C A, Bender P L

机构信息

Children's Hospital Medical Center, Cincinnati, OH 455229, USA.

出版信息

Neonatal Netw. 1999 Aug;18(5):13-9. doi: 10.1891/0730-0832.18.5.13.

Abstract

The label Pierre Robin sequence is given to infants presenting with a triad of specific congenital anomalies: micrognathia, glossoptosis, and cleft palate. However, this label should be considered the first, not the final, step in the diagnostic process. In approximately 80 percent of newborns with Pierre Robin sequence, the triad of anomalies is part of an underlying genetic condition. This article reviews the variable etiologies of and general clinical considerations for Pierre Robin sequence. To illustrate how clinical management might vary based on the identification of an underlying condition, three case examples of neonates with Pierre Robin sequence and different underlying genetic conditions are presented.

摘要

“皮埃尔·罗宾序列征”这一标签用于患有特定先天性异常三联征的婴儿:小颌畸形、舌后坠和腭裂。然而,这个标签应被视为诊断过程的第一步,而非最后一步。在大约80%患有皮埃尔·罗宾序列征的新生儿中,这种异常三联征是潜在遗传疾病的一部分。本文回顾了皮埃尔·罗宾序列征的多种病因及一般临床注意事项。为说明根据潜在疾病的诊断临床管理可能会如何不同,本文给出了三名患有皮埃尔·罗宾序列征且潜在遗传疾病不同的新生儿的病例示例。

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