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重叠性前脑无裂畸形-多指综合征与窒息性胸廓发育不良，产前晚期超声检查中的偶然发现：一例罕见病例报告

Overlapping holoprosencephaly-polydactyl syndrome and asphyxiating thoracic dystrophy, an incidental finding in late prenatal ultrasound: A rare case report.

作者信息

Sereke Senai Goitom, Oriekot Anthony, Bongomin Felix

机构信息

Department of Radiology and Radiotherapy School of Medicine Makerere University College of Health Sciences Kampala Uganda.

Department of Medicine School of Medicine Makerere University College of Health Sciences Kampala Uganda.

出版信息

Clin Case Rep. 2021 Jan 24;9(3):1577-1582. doi: 10.1002/ccr3.3836. eCollection 2021 Mar.

DOI:10.1002/ccr3.3836
PMID:33768892
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7981735/
Abstract

Holoprosencephaly-polydactyly syndrome and asphyxiating thoracic dystrophy rarely overlap but if they do, they have poorer prognosis. Early prenatal detection of multiple congenital anomalies plays a crucial role in the management of pregnancy.

摘要

前脑无裂畸形-多指综合征与窒息性胸廓发育不良很少重叠，但如果重叠，预后较差。多种先天性异常的早期产前检测在孕期管理中起着关键作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a8d/7981735/0623421d9487/CCR3-9-1577-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a8d/7981735/d8d83f1111bc/CCR3-9-1577-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a8d/7981735/ffad7ec0487a/CCR3-9-1577-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a8d/7981735/0623421d9487/CCR3-9-1577-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a8d/7981735/d8d83f1111bc/CCR3-9-1577-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a8d/7981735/ffad7ec0487a/CCR3-9-1577-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a8d/7981735/0623421d9487/CCR3-9-1577-g001.jpg

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本文引用的文献

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BMC Pregnancy Childbirth. 2017 Jan 5;17(1):4. doi: 10.1186/s12884-016-1203-6.
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Prenatal ultrasound diagnosis of holoprosencephaly and associated anomalies.全前脑畸形及相关异常的产前超声诊断
BMJ Case Rep. 2012 Sep 25;2012:bcr0320126129. doi: 10.1136/bcr-03-2012-6129.
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前脑无裂畸形-多指/假13三体综合征：两例新病例报告及文献复习
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