Evidence map›Paper›PMID 36728278›Full record

ArticleJournal of clinical research in pediatric endocrinology2024

Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome

Nikolinka Yordanova, Violeta Iotova, Deborah J G Mackay, I Karen Temple, Sara Stoyanova, Mari Hachmeriyan

Open access · goldAbstract readCase Reports
In one paragraph

Article in Journal of clinical research in pediatric endocrinology, 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
0.6field-weighted citation impact, top 25% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  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

6 authors at 3 institutions in 2 countries.

Nikolinka YordanovaMedical University-Varna, Department of Pediatrics, Varna, BulgariaORCID 0000-0003-2806-026X
Violeta IotovaMedical University-Varna, Department of Pediatrics, Varna, BulgariaORCID 0000-0003-4160-1200
Deborah J G MackayWessex Regional Genetics Laboratory, Salisbury Foundation NHS Trust, Salisbury, United KingdomORCID 0000-0003-3088-4401
I Karen TempleUniversity of Southampton Faculty of Medicine, Department of Medical Genetics, Southampton, United KingdomORCID 0000-0002-6045-1781
Sara StoyanovaMedical University-Varna, Department of Pediatrics, Varna, BulgariaORCID 0000-0003-0489-3734
Mari HachmeriyanMedical University, Department of Medical Genetics, Varna, BulgariaORCID 0000-0002-8847-4651
Medical University of Varna · BGUniversity of Southampton · GBWessex Regional Genetics Laboratory · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Temple syndrome is a rare imprinting disorder, caused by alterations in the critical imprinted region 14q32 of chromosome 14. It is characterized by pre- and postnatal growth retardation, truncal hypotonia and facial dysmorphism in the neonatal period. We report an 18-year-old girl with a late diagnosis of Temple syndrome presenting with all typical signs and symptoms including small for gestational age at birth, feeding difficulties, muscle hypotonia and delayed developmental milestones, central precocious puberty, truncal obesity and reduced growth. The patient is the second reported in the literature with signs of clinical and biochemical hyperandrogenism and the first treated with Dehydrocortisone

Indexed as

Chromosomes, Human, Pair 14AdolescentDelayed DiagnosisFaciesFemaleFollow-Up StudiesGenomic ImprintingGrowth DisordersHumansImprinting DisordersMuscle Hypotonialate diagnosislong-term follow-upTemple syndrome

Identifiers

PMID36728278
PMCPMC11629717
OpenAlexW4318918225

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.