Evidence map›Paper›PMID 40507954›Full record

ReviewInternational journal of molecular sciences2025

Challenges in Prenatal Ultrasound Diagnosis of Rubinstein-Taybi Syndrome: A Case Report and Comprehensive Literature Review.

Daniela Roxana Matasariu, Iuliana-Elena Bujor, Roxana Maria Gireada, Luiza Maria Guzga, Florina Mihaela Nedelea, Monica Titianu, Alexandra Ursache

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

Review in International journal of molecular sciences, 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

7 authors.

Daniela Roxana MatasariuDepartment of Mother and Child, University of Medicine and Pharmacy 'Gr. T. Popa', 700115 Iasi, Romania.ORCID 0000-0002-2862-2069
Iuliana-Elena BujorDepartment of Mother and Child, University of Medicine and Pharmacy 'Gr. T. Popa', 700115 Iasi, Romania.
Roxana Maria GireadaDepartment of Mother and Child, University of Medicine and Pharmacy 'Gr. T. Popa', 700115 Iasi, Romania.
Luiza Maria GuzgaDepartment of Obstetrics and Gynecology, Nativia Clinic, 030167 Bucharest, Romania.
Florina Mihaela NedeleaDepartment of Obstetrics and Gynecology, Filantropia Clinical Hospital, 011171 Bucharest, Romania.
Monica TitianuDepartment of Obstetrics and Gynecology, Cuza Voda Hospital, 700038 Iasi, Romania.
Alexandra UrsacheDepartment of Mother and Child, University of Medicine and Pharmacy 'Gr. T. Popa', 700115 Iasi, Romania.ORCID 0000-0002-8207-7655

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder characterized by distinctive craniofacial, limb, and developmental abnormalities, often identified postnatally. Prenatal diagnosis remains challenging due to a scarcity of ultrasound diagnostic markers and a wide range of phenotypic manifestations. We describe the case of a 28-year-old pregnant patient who presented to our center after fetal abnormalities such as aberrant cranial morphology, a shorter femur, and rocker-bottom feet were detected. A comprehensive ultrasound examination at 26 weeks revealed skeletal and craniofacial characteristics suggestive of RSTS, which prompted genetic counseling and molecular karyotyping. Single-nucleotide polymorphism (SNP) array analysis confirmed a loss on chromosome 16p13.3, including the

Indexed as

Rubinstein-Taybi SyndromeUltrasonography, PrenatalAdultChromosomes, Human, Pair 16CREB-Binding ProteinFemaleHumansKaryotypingPolymorphism, Single NucleotidePregnancyCREB-Binding ProteinCREBBP protein, humanbroad thumb-halluxchromosome 16p13.3congenital anomaliesCREBBP geneprenatal diagnosisRubinstein–Taybi syndromeSNP arrayultrasound

Identifiers

PMID40507954
PMCPMC12155497

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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.