Evidence map›Paper›PMID 42158768›Full record

ArticleCureus2026

Fraser Syndrome in a Newborn: Diagnostic Challenges Based on Clinical Criteria.

Kaoutar Ettoini, Khadija Mesbah, Yousra Elboussaadni, Abdallah Oulmaati

Abstract readCase Reports
In one paragraph

Article in Cureus, 2026. 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.

Kaoutar EttoiniPediatrics, Centre Hospitalier Universitaire Mohammed VI - Tanger, Tangier, MAR.
Khadija MesbahPediatrics, Centre Hospitalier Universitaire Mohammed VI - Tanger, Tangier, MAR.
Yousra ElboussaadniPediatrics, Centre Hospitalier Universitaire Mohammed VI - Tanger, Tangier, MAR.
Abdallah OulmaatiPediatrics, Centre Hospitalier Universitaire Mohammed VI - Tanger, Tangier, MAR.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fraser syndrome is a rare autosomal recessive congenital malformation syndrome characterized by a wide clinical spectrum, including ocular, limb, genital, and visceral anomalies. Diagnosis is suggested by the association of multiple characteristic malformations. We report the case of a newborn admitted to the Neonatology and Neonatal Intensive Care Unit of Mohammed VI University Hospital in Tangier, born to consanguineous parents, who presented with a polymalformative syndrome associating bilateral anophthalmia with ankyloblepharon, syndactyly, genital anomaly, anal imperforation, and low-set ears. Additional ultrasound assessment revealed associated cardiac and genital abnormalities, without major renal involvement. The overall clinical and radiological findings were highly suggestive of Fraser syndrome. This observation highlights the phenotypic heterogeneity of Fraser syndrome and emphasizes the diagnostic value of careful clinical evaluation in the presence of multiple congenital malformations, particularly in a context of consanguinity. Early prenatal suspicion may help optimize perinatal management and parental counseling. Management is multidisciplinary and involves neonatologists, pediatric surgeons, geneticists, and long-term follow-up. Prognosis depends on the type and severity of associated malformations and remains guarded in severe presentations.

Indexed as

anophthalmiaclinical diagnosisfras1 genefraser syndromegenital anomaliespolymalformative syndromerare genetic disordersyndactyly

Identifiers

PMID42158768
PMCPMC13181294

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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.