Evidence map›Paper›PMID 33748234›Full record

ArticleWorld journal of clinical cases2021

A three-year clinical investigation of a Chinese child with craniometaphyseal dysplasia caused by a mutated

Jia-Li Wu, Xiao-Li Li, Shu-Mei Chen, Xiao-Ping Lan, Jin-Jin Chen, Xiao-Yan Li, Wei Wang

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in World journal of clinical cases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 57% of its field
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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Article
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

7 authors at 3 institutions in 2 countries.

Jia-Li WuDepartment of Otolaryngology and Head and Neck Surgery, Shanghai Children's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200062, China.
Xiao-Li LiDepartment of Radiation Oncology, Longhua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai 200032, China.
Shu-Mei ChenDepartment of Otolaryngology and Head and Neck Surgery, Shanghai Children's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200062, China.
Xiao-Ping LanMolecular Diagnostic Laboratory, Shanghai Children's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200062, China.
Jin-Jin ChenDepartment of Child Healthcare, Shanghai Children's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200062, China.
Xiao-Yan LiDepartment of Otolaryngology and Head and Neck Surgery, Shanghai Children's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200062, China.
Wei WangShanghai AhCare Consulting, Shanghai 20120, China. angei200598@126.com.
Shanghai Children's Hospital · CNShanghai University of Traditional Chinese Medicine · CNShanghai Medical Information Center · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCraniometaphyseal dysplasia (CMD) is a rare genetic disorder. Autosomal dominant CMD (AD-CMD) is caused by mutations in the CASE SUMMARY: A 17-mo-old boy presented with progressive nasal obstruction, snoring and hearing loss symptoms. Physical examination showed enlargement of the head circumference and clinical features such as wide nasal bridge, paranasal bossing, widely spaced eyes with an increased bizygomatic width, and a prominent mandible. The patient underwent otolaryngological examination, endoscopy, hearing test, laboratory examination of phosphorus and bone metabolism, cranial and femoral computed tomography, X-ray and next-generation sequencing. The patient was diagnosed with AD-CMD due to p.Phe377 deletion (c.1129_1131del) on exon 9 of the

conclusionWe herein report the first Chinese case of AD-CMD with heterozygous mutation of p.Phe377 deletion (c.1129_1131del) on the

Indexed as

ANKH gene mutationCase reportChildClinical investigationCraniometaphyseal dysplasia

Identifiers

PMID33748234
PMCPMC7953411
OpenAlexW3134422701

What OpenQuestion holds

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Registered trials

None linked

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.