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A Cleft Lip and Palate Case With Fraser Syndrome: Case Report and Literature Review

2022· article· en· W4220698435 on OpenAlexaboutno aff
Necip Sefa Özden, Arda Özdemir, Nijat Babayev, Savaş Serel

Bibliographic record

VenueJournal of Ankara University Faculty of Medicine · 2022
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicOcular Disorders and Treatments
Canadian institutionsnot available
Fundersnot available
KeywordsMedicineOrthodontics

Abstract

fetched live from OpenAlex

Fraser syndrome, which is also known as cryptophthalmos-syndactyly syndrome, is a rare autosomal recessive multisystemic genetic disease.This syndrome was first described in 1962 by Canadian Genetic specialist Fraser.Cryptophthalmos, cutaneous syndactyly, head and neck anomalies, urogenital and central nervous system malformations are the main features.In this case report, a patient with cryptophthalmos, syndactily, testicular agenesis, craniofacial anomalies and bilateral cleft lip-palate, who was diagnosed with Fraser syndrome, was presented.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Case report · Consensus signal: Case report
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.006
Threshold uncertainty score0.015

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0060.007
Science and technology studies0.0020.002
Scholarly communication0.0020.003
Open science0.0020.002
Research integrity0.0030.002
Insufficient payload (model declined to judge)0.0050.002

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.007
GPT teacher head0.234
Teacher spread0.228 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designCase report
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations0
Published2022
Admission routes1
Has abstractyes

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