Evidence map›Paper›PMID 40803816›Full record

ReviewJournal of medical genetics2025

New patients with duplication of the pituitary gland-plus syndrome, including a

Kochakorn Buasri, Pattima Pakhathirathien, Thiparom Sananmuang, Sarayuth Dumrongwongsiri, Anucha Thatrimontrichai, Gunlawadee Maneenil, Arthaporn Khongkraparn, Lukana Ngiwsara, Phannee Sawangareetrakul, Jisnuson Svasti and 2 more

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

Review in Journal of medical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

12 authors.

Kochakorn BuasriDepartment of Pediatrics, Mahidol University, Bangkok, Thailand.
Pattima PakhathirathienDepartment of Pediatrics, Prince of Songkla University, Hat Yai, Thailand.
Thiparom SananmuangDepartment of Diagnostic and Therapeutic Radiology, Mahidol University, Bangkok, Thailand.
Sarayuth DumrongwongsiriDepartment of Surgery, Mahidol University, Bangkok, Thailand.
Anucha ThatrimontrichaiDepartment of Pediatrics, Prince of Songkla University, Hat Yai, Thailand.
Gunlawadee ManeenilDepartment of Pediatrics, Prince of Songkla University, Hat Yai, Thailand.
Arthaporn KhongkraparnDepartment of Pediatrics, Mahidol University, Bangkok, Thailand.
Lukana NgiwsaraChulabhorn Research Institute, Bangkok, Thailand.
Phannee SawangareetrakulChulabhorn Research Institute, Bangkok, Thailand.
Jisnuson SvastiChulabhorn Research Institute, Bangkok, Thailand.
Anne SlavotinekCincinnati Children's Hospital Medical Center Division of Human Genetics, Cincinnati, Ohio, USA.
Duangrurdee WattanasirichaigoonDepartment of Pediatrics, Mahidol University, Bangkok, Thailand duangrurdee.wat@mahidol.ac.th.ORCID http://orcid.org/0000-0003-2329-2176

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundDuplication of the pituitary gland (DPG)-plus syndrome is an extremely rare developmental malformation of unknown aetiology.

methodsTwo unreported patients of DPG-plus syndrome are described. Underlying genetic defects were explored, including chromosomal microarray (CMA), whole exome sequencing (WES) and mRNA analysis. A literature review was presented.

resultsPatient 1 had DPG, palatal cleft, bifid tongue, intraoral teratoma, lingual hamartoma and duplicated basilar artery and odontoid process. Patient 2 had DPG, epignathus teratoma, a nasal mass, choanal atresia, cleft palate, bifid tongue, abnormal basilar artery and fused upper cervical spine. CMA yielded normal results. WES of patient 1 disclosed a novel splice site

conclusionsTwo new cases of DPG-plus syndrome were reported, with rare findings of epignathus and choanal atresia. We propose that DPG-plus syndrome may result from a double hit in one of the genes involved in

Indexed as

Abnormalities, MultiplePatched-1 ReceptorPituitary GlandExome SequencingFemaleHumansMalePatched-1 ReceptorNervous System MalformationsPituitary DiseasesWhole Exome Sequencing

Identifiers

PMID40803816
PMCPMC12573385

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.