Evidence map›Paper›PMID 38987191›Full record

ArticleInternal medicine (Tokyo, Japan)2025

A Japanese Boy with Dysmorphic Syndrome with Multiple Pituitary Hormone Deficiency and Gingival Fibromatosis Due to a Pathogenic KCNQ1 Variant.

Hisakazu Nakajima, Kazuki Kodo, Hidechika Morimoto, Shinsuke Hori, Satoru Sugimoto

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2025. 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. Review
  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.

Hisakazu NakajimaDepartment of Pediatrics, North Medical Center Kyoto Prefectural University of Medicine, Japan.
Kazuki KodoDepartment of Pediatrics, North Medical Center Kyoto Prefectural University of Medicine, Japan.
Hidechika MorimotoDepartment of Pediatrics, North Medical Center Kyoto Prefectural University of Medicine, Japan.
Shinsuke HoriDepartment of Oral and Dental Surgery, Kyotango City Kumihama Hospital, Japan.
Satoru SugimotoDepartment of Pediatrics, North Medical Center Kyoto Prefectural University of Medicine, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A six-year-old boy presented with short stature and gingival fibromatosis (GF). Dysmorphic features included slant optic fissures, a high-arched palate, thick earlobes, and an edematous face. Laboratory tests showed low levels of serum insulin-like growth factor-1 and serum free thyroxine but normal serum thyrotropin levels. Provocative tests suggested growth hormone deficiency, central hypocortisolemia, and hypothalamic hypothyroidism. At 12 years old, hypogonadotropic hypogonadism was observed. Next-generation sequencing revealed a heterozygous missense variant, KCNQ1 p. (P369L), in the proband and mother. The coexistence of multiple pituitary hormone deficiencies and GF helps diagnose KCNQ1-variant dysmorphic syndrome through genetic testing.

Indexed as

Abnormalities, MultipleFibromatosis, GingivalHypopituitarismKCNQ1 Potassium ChannelChildEast Asian PeopleHumansMaleMutation, MissenseSyndromeKCNQ1 Potassium ChannelKCNQ1 protein, humangingival fibromatosisKCNQ1multiple pituitary hormone deficiencyshort stature

Identifiers

PMID38987191
PMCPMC11904462

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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.