Evidence map›Paper›PMID 39911167›Full record

ArticleMolecular syndromology2025

Key Clinical and X-Ray Characteristics for the Diagnosis of Kenny-Caffey Syndrome Types 1 and 2.

Enver Simsek, Sumeyye Emel Eren, Atilla Cayir, Oguzhan Tokur, Oguz Cilingir, Tulay Simsek

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

Article in Molecular syndromology, 2025. 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
–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

1 citing paper in PubMed.

  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

6 authors.

Enver SimsekDepartment of Pediatric Endocrinology, Eskisehir Osmangazi University, Eskisehir, Turkey.
Sumeyye Emel ErenDepartment of Pediatric Endocrinology, Ankara Etlik State Hospital, Ankara, Turkey.
Atilla CayirDepartment of Pediatric Endocrinology, Erzurum Regional Training and Research Hospital, Erzurum, Turkey.
Oguzhan TokurDepartment of Radiology, Kutahya Health Sciences University, Kutahya, Turkey.
Oguz CilingirDepartment of Medical Genetics, Eskisehir Osmangazi University, Eskisehir, Turkey.
Tulay SimsekDepartment of Ophthalmology, Eskisehir Osmangazi University, Eskisehir, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Kenny-Caffey syndrome (KCS) is a rare syndrome characterized by short stature, hypoparathyroidism, eye abnormalities, and skeletal dysplasia. Two types of KCS result from pathogenic variants in the tubulin-specific chaperone E ( Case Presentation: In this study, we present 4 patients from three different families exhibiting facial dysmorphism, postnatal growth retardation, short stature, delayed bone age, cortical thickening and medullary stenosis of the bones, and hypoparathyroidism. Two of these cases were diagnosed with growth hormone (GH) deficiency and underwent GH therapy, highlighting the response to GH treatment in KCS. Three consanguineous cases of KCS type 1 possess a homozygous variant c.155_166del in the Conclusions: Our findings suggest that prenatal and postnatal growth failure is a prominent characteristic of this syndrome, with KCS types 1 and 2 showing overlapping features.

Indexed as

FAM111AGrowth hormoneHypoparathyroidismKenny-Caffey syndromeShort statureTBCE

Identifiers

PMID39911167
PMCPMC11793900

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.