ArticleCureus2026
Unraveling a Rare Diagnosis: Genetically Confirmed Cornelia De Lange Syndrome in an Emirati Female Patient.
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.
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.
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.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cornelia de Lange syndrome (CdLS) is a rare multisystem genetic disorder characterized by distinctive facial features, developmental delay, and a range of congenital anomalies. Despite increasing recognition globally, detailed reports from the Arabian Gulf region remain limited, particularly those incorporating long-term clinical follow-up and genetic confirmation. Here, we report the case of a 28-year-old Emirati female who was clinically diagnosed with CdLS at birth and subsequently developed intractable epilepsy, profound developmental delay, hypothyroidism, stage 3 chronic kidney disease, and significant behavioral difficulties. The patient is bedridden, noncommunicative, and fully dependent on family care. Genetic testing identified a novel 4-base-pair frameshift insertion pathogenic variant impacting the NIPBL gene, confirming the clinical diagnosis and underscoring the diagnostic complexity, multifaceted management challenges, and the critical need for coordinated multidisciplinary care in patients with CdLS.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.