Bilateral anophthalmia in a neonate: a syndromic presentation with multisystem anomalies and diagnostic challenges.

Mira Hallak, Baraa Emran, Fathi Milhem, Abdalfatah Badran, Ajwad Mallak, Orabi Hajjeh, Noor Nabresi

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Article in Oxford medical case reports, 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

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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.

Bilateral Anophthalmia Associated With Ventricular Septal Defect, Atrial Septal Defect, and Patent Ductus Arteriosus: A Rare Neonatal Case Report.Case reports in pediatrics · 2026
Article

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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.

Mira HallakDepartment of Medicine, An Najah National University, Nablus, Palestine.

Baraa EmranDepartment of Medicine, An Najah National University, Nablus, Palestine.

Fathi MilhemDepartment of Medicine, An Najah National University, Nablus, Palestine.

Abdalfatah BadranDepartment of Medicine, An Najah National University, Nablus, Palestine.

Ajwad MallakDepartment of Medicine, An Najah National University, Nablus, Palestine.

Orabi HajjehDepartment of Medicine, An Najah National University, Nablus, Palestine.

Noor NabresiPediatric department, Dr. Thabet Thabet Hospital, Tulkarm, Postal Code P304, Palestine.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Anophthalmia is a rare congenital defect where no ocular tissue is seen, and it involves 1 out of 10 000 to 20 000 live births. It is largely part of syndromes and consists of genetic, environmental origins, or multifactorial causes. We present a case of a neonate with bilateral anophthalmia, ambiguous external genitalia, microcephaly, and renal ectopy, suggesting a syndromic etiology. Despite receiving multidisciplinary care, the patient unfortunately succumbed to complications, including refractory respiratory distress and seizures. Early diagnosis relies on timely imaging and confirmation, with management guided by appropriate genetic testing, an approach well illustrated by this case. Anophthalmia presents medical and psychosocial challenges that require a coordinated, multidisciplinary approach.

Indexed as

anophthalmiacongenital anomalygenetic testingmultidisciplinary caremultisystem anomaliessyndromic presentation

Identifiers

PMID40843047

DOI10.1093/omcr/omaf133

PMCPMC12365957

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