Evidence map›Paper›PMID 38929963›Full record

ArticleJournal of clinical medicine2024

Floating-Harbor Syndrome: A Systematic Literature Review and Case Report.

Wojciech Dobrzynski, Julia Stawinska-Dudek, Natalia Moryto, Dominika Lipka, Marcin Mikulewicz

Abstract readCase Reports
In one paragraph

Article in Journal of clinical medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

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

2 citing papers in PubMed.

  1. Article
  2. 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

5 authors.

Wojciech DobrzynskiDepartment of Dentofacial Orthopaedics and Orthodontics, Division of Facial Abnormalities, Medical University of Wroclaw, 50-425 Wroclaw, Poland.
Julia Stawinska-DudekStudent Scientific Group, Department of Dentofacial Orthopaedics and Orthodontics, Division of Facial Abnormalities, Medical University of Wroclaw, 50-425 Wroclaw, Poland.
Natalia MorytoStudent Scientific Group, Department of Dentofacial Orthopaedics and Orthodontics, Division of Facial Abnormalities, Medical University of Wroclaw, 50-425 Wroclaw, Poland.
Dominika LipkaStudent Scientific Group, Department of Dentofacial Orthopaedics and Orthodontics, Division of Facial Abnormalities, Medical University of Wroclaw, 50-425 Wroclaw, Poland.
Marcin MikulewiczDepartment of Dentofacial Orthopaedics and Orthodontics, Division of Facial Abnormalities, Medical University of Wroclaw, 50-425 Wroclaw, Poland.ORCID 0000-0001-5754-0284

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Floating-Harbor syndrome (FHS) is an extremely rare genetic disorder connected with a distinctive facial appearance, various skeletal malformations, delayed bone age, and expressive language delays. It is caused by heterozygous mutations in the Snf2-related CREBBP activator protein (SRCAP) gene. The aim of this paper is to describe the case of a 14-year-old male with FHS, referring to a review of the literature, and to collect all reported symptoms. In addition, the orthodontic treatment of the patient is described. For this, the electronic databases PubMed and Scopus were searched using the keyword "Floating-Harbor syndrome". Similar to previous cases in the literature, the patient presented with short stature; a triangular face with a large bulbous nose; deep-set eyes and narrow eyelid gaps; a wide mouth with a thin vermilion border of the upper lip; and dorsally rotated, small ears. They also presented some less-described symptoms, such as macrodontia and micrognathia. Moreover, mild mental retardation, microcephaly, and delayed psychomotor development were found. On the basis of an extraoral, intraoral examination, X-rays, and CBCT, he was diagnosed with overbite, canine class I and angle class III, on both sides. To the best of our knowledge, orthodontic treatment of this disease has not been assessed in detail so far, so this is the first case.

Indexed as

cephalometrycraniofacial abnormalitiesdental anomaliesFloating–Harbor syndromemalocclusionshort stature

Identifiers

PMID38929963
PMCPMC11204875

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Registered trials

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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.