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患有双面畸形和前脑无裂畸形的早产儿。

Preterm infant with diprosopus and holoprosencephaly.

作者信息

Nair Nitya M, Swarr Daniel T, Barnes-Davis Maria E

机构信息

Division of Neonatology Department of Pediatrics Emory University School of Medicine and Children's Healthcare of Atlanta Atlanta Georgia USA.

Perinatal Institute Section of Neonatology Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA.

出版信息

Clin Case Rep. 2021 Dec 22;9(12):e05163. doi: 10.1002/ccr3.5163. eCollection 2021 Dec.

Abstract

Diprosopus is an extremely rare congenital anomaly involving craniofacial duplication. The etiology and pathophysiology remain unknown, and no genetic mutations have been definitively associated with the condition. This case describes an infant born at 27-weeks completed gestation with multiple congenital anomalies including diprosopus and discusses the implications of prenatal diagnosis.

摘要

双面畸形是一种极其罕见的涉及颅面部重复的先天性异常。其病因和病理生理学仍不清楚,且尚未明确有基因突变与该病症相关。本病例描述了一名孕27周足月出生的婴儿,伴有包括双面畸形在内的多种先天性异常,并讨论了产前诊断的意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dee5/8695654/5007cef178d3/CCR3-9-e05163-g001.jpg

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