Evidence map›Paper›PMID 40390968›Full record

ArticleJournal of obstetrics and gynaecology of India2025

A Rare Case of Prenatally Diagnosed Pfeiffer Syndrome with Multicystic Kidney.

Poornima Sharma, Shreya Singh Kushwaha, Suchandana Dasgupta, Sumitra Bachani

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

Article in Journal of obstetrics and gynaecology of India, 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

4 authors.

Poornima SharmaFetal Medicine Division, Department of Obstetrics and Gynaecology, VMMC and Safdarjung Hospital, New Delhi, India.
Shreya Singh KushwahaFetal Medicine Division, Department of Obstetrics and Gynaecology, VMMC and Safdarjung Hospital, New Delhi, India.
Suchandana DasguptaFetal Medicine Division, Department of Obstetrics and Gynaecology, VMMC and Safdarjung Hospital, New Delhi, India.
Sumitra BachaniFetal Medicine Division, Department of Obstetrics and Gynaecology, VMMC and Safdarjung Hospital, New Delhi, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pfeiffer syndrome is a rare syndromic craniosynostosis characterized by bilateral coronal craniosynostosis, midface hypoplasia, beaked nasal tip, broad and medially deviated thumbs and great toes. It is caused by mutations affecting the fibroblast growth factor receptors type 1 or 2 (FGFR1 or FGFR2), with autosomal dominant inheritance. It displays substantial clinical and genetic heterogeneity. The disorder is usually detected in the neonatal period, and very few prenatally diagnosed cases have been reported.

Indexed as

CraniosynostosisFoetal autopsyHistopathological examinationPrenatal ultrasoundWhole exome sequencing

Identifiers

PMID40390968
PMCPMC12085495

What OpenQuestion holds

Textmetadata
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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.