Evidence map›Paper›PMID 38784139›Full record

ArticleInternational medical case reports journal2024

Lessons to Learn About the Misdiagnosis of a Rare Case in China: Bart Syndrome or Carmi Syndrome?

Xiaoqing Wei, Junying Zhang, Youwen Mei, Eqiong Li, Qianling Dai, Xiaoli Yang, Dan Luo, Biao Li, Ping Hua, Jian Cai and 5 more

Abstract readCase Reports
In one paragraph

Article in International medical case reports journal, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Xiaoqing Wei *Department of Cervical Disease and Cervical Cancer Prevention and Treatment, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People's Republic of China.ORCID 0000-0002-6456-2737
Junying Zhang *Clinical Laboratory Department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People's Republic of China.ORCID 0000-0001-7557-2773
Youwen MeiDepartment of Reproduction and Infertility, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People's Republic of China.ORCID 0000-0002-6963-3100
Eqiong LiDepartment of Gynecology, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People's Republic of China.ORCID 0000-0002-9086-3023
Qianling DaiDepartment of Cervical Disease and Cervical Cancer Prevention and Treatment, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People's Republic of China.ORCID 0000-0003-0934-1760
Xiaoli YangDepartment of Cervical Disease and Cervical Cancer Prevention and Treatment, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People's Republic of China.ORCID 0000-0003-3001-633X
Dan LuoDepartment of Obstetrics, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People's Republic of China.ORCID 0009-0008-7665-797X
Biao LiDepartment of Neonatal Intensive Care Unit, Chengdu Women' and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People's Republic of China.ORCID 0000-0002-4412-1811
Ping HuaDepartment of Pathology, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People's Republic of China.ORCID 0009-0008-2142-9646
Jian CaiDepartment of Pathology, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People's Republic of China.ORCID 0009-0007-0057-7191
Hua LaiDepartment of Radiation and Interventional Therapy, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People's Republic of China.ORCID 0000-0002-2784-2158
Dongfeng QiDepartment of Ultrasonics, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People's Republic of China.ORCID 0009-0002-9436-9687
Sha LaiDermatology Department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People's Republic of China.ORCID 0000-0003-2979-7319
Mi QinDepartment of Pediatric Surgery, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People's Republic of China.ORCID 0009-0006-1534-3091
Yonghong LinDepartment of Gynecology, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People's Republic of China.ORCID 0000-0001-7566-8732

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: We report a case of Carmi Syndrome in a neonate. Aim: To share our lessons in diagnosis of the case of Carmi Syndrome. Case Report: Carmi Syndrome is an extremely rare autosomal recessive genetic disorder characterized the coexistence of pyloric atresia and junctional epidermolysis bullosa, and with aplasia cutis congenita in approximately 28% patients. In this case, a full-term male neonate was born to a G Outcome: The neonate passed away about 30 hours after birth. Conclusion: Lessons from this case:①.Rule out Carmi Syndrome in patients with PA, and differentiate Bart syndrome and Carmi Syndrome in patients with abnormal skin manifestations. ②. For rare and/or severe diseases, multidisciplinary teams(MDTs) should be establish. ③. Genetic counseling and prenatal diagnosis are necessary prior to subsequent childbearings. ④.Termination of pregnancy might be contemplated if certain indicators are revealed.

Indexed as

ACCaplasia cutis congenitabart syndromeCarmi syndromeCLAScongenital localized absence of skincongenital pyloric atresiaCPAEBEB-PAepidermolysis bullosaepidermolysis bullosa with pyloric atresiaJEBjunctional epidermolysis bullosaMDTmultidisciplinary teamsPApyloric atresia

Identifiers

PMID38784139
PMCPMC11114136

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.