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埃利斯-范克里维尔德综合征：一名患有罕见心脏异常但智力正常的印度儿童的罕见病例报告。

Ellis-Van Creveld Syndrome: A Rare Case Report of an Indian Child With Rare Cardiac Anomalies and Normal Intelligence.

作者信息

Ghosh Benumadhab, Sahai Isha, Agrawal Gajendra, Acharya Sourya, Christopher Johann

机构信息

Department of Cardiology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Wardha, IND.

Department of Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Wardha, IND.

出版信息

Cureus. 2022 Oct 2;14(10):e29846. doi: 10.7759/cureus.29846. eCollection 2022 Oct.

DOI:10.7759/cureus.29846
PMID:36381850
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9635940/
Abstract

Ellis-Van Creveld syndrome (EVCS) is an abnormal genetic condition of the gene located on chromosome 4. In this case, the person presents with bone growth abnormalities, thus having a short stature, short arms and legs (more commonly the forearm and lower leg), a narrow chest with short ribs, polydactyly, spoon-shaped or malformed nails, abnormalities in dentition, and congenital heart defects like atrial septal defects and ventricular septal defects. In this case report, we present a 4.5-year-old female child who presented with cough and cyanosis as signs and tachypnea, tachycardia, facial oedema, cold, and clubbing as symptoms with polydactyly and short stature focuses on a rare presentation of a syndromic disease known as EVCS.

摘要

埃利斯-范克里维尔德综合征（EVCS）是一种位于4号染色体上的基因异常遗传病。在这种情况下，患者会出现骨骼生长异常，从而身材矮小、手臂和腿部短小（更常见于前臂和小腿）、胸部狭窄且肋骨短、多指畸形、匙状或畸形指甲、牙齿异常以及先天性心脏缺陷，如房间隔缺损和室间隔缺损。在本病例报告中，我们介绍了一名4.5岁女童，她以咳嗽和发绀为体征，呼吸急促、心动过速、面部水肿、发冷和杵状指为症状，伴有多指畸形和身材矮小，重点关注一种名为EVCS的综合征疾病的罕见表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/8ca066fb17bb/cureus-0014-00000029846-i12.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/b69aa91eb002/cureus-0014-00000029846-i01.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/3c5c7064c367/cureus-0014-00000029846-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/ceee7d930c03/cureus-0014-00000029846-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/85ff677274c4/cureus-0014-00000029846-i07.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/92b904e5756b/cureus-0014-00000029846-i08.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/8829398f2b6a/cureus-0014-00000029846-i09.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/fe7740cc5cf0/cureus-0014-00000029846-i10.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/4990a3d7045e/cureus-0014-00000029846-i11.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/8ca066fb17bb/cureus-0014-00000029846-i12.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/b69aa91eb002/cureus-0014-00000029846-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/5da346235a4e/cureus-0014-00000029846-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/9684bfed41f3/cureus-0014-00000029846-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/e2ca4c2c9f21/cureus-0014-00000029846-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/3c5c7064c367/cureus-0014-00000029846-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/ceee7d930c03/cureus-0014-00000029846-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/85ff677274c4/cureus-0014-00000029846-i07.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/92b904e5756b/cureus-0014-00000029846-i08.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/8829398f2b6a/cureus-0014-00000029846-i09.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/fe7740cc5cf0/cureus-0014-00000029846-i10.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/4990a3d7045e/cureus-0014-00000029846-i11.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54db/9635940/8ca066fb17bb/cureus-0014-00000029846-i12.jpg

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2
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Imaging Sci Dent. 2011 Dec;41(4):167-70. doi: 10.5624/isd.2011.41.4.167. Epub 2011 Dec 19.
3
Ellis van Creveld syndome.埃利斯-范克里维尔德综合征
J Assoc Physicians India. 2009 Jul;57:532-4.
4
Clinical manifestations of Ellis-van Creveld syndrome.埃-范二氏综合征的临床表现。
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