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Craniofacial Defects and Cleft Lip and Palate

2017· other· en· W2606947645 on OpenAlexaff
Joy M. Richman, Siddharth R. Vora

Bibliographic record

VenueEncyclopedia of Life Sciences · 2017
Typeother
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCleft Lip and Palate Research
Canadian institutionsUniversity of British Columbia
Fundersnot available
KeywordsCraniofacialHoloprosencephalySecondary palateCamptodactylyMorphogenesisAnatomyMedicineCraniofacial abnormalityCongenital malformationsEtiologyEmbryologyPrognathismBiologyGeneticsOrthodonticsGenePathologyPregnancyFetus

Abstract

fetched live from OpenAlex

Abstract Serious malformations of the face present at birth are due to disturbances of embryonic development. Formation of the face begins during the fifth week post conception, and by 7 weeks, the lip is completely fused and continuous. The secondary palate forms between 7 and 11 weeks and is influenced by the growth of the surrounding head. Early disruption of lip and palate morphogenesis gives rise to severe orofacial clefts, whereas later disturbances cause microforms of clefting. Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is linked to polymorphisms in multiple genes and influences from the environment. In contrast, syndromic facial anomalies are attributed to defined changes in the genome and are accompanied by deficiencies in several organ systems. Key Concepts The face is susceptible to malformations due to the complex 4D nature of embryonic morphogenesis. Multiple prominences need to come together and fuse at precisely the right time during development in order for lip and palate fusion to occur. The genes that cause syndromes with craniofacial phenotypes overlap with the genes that contribute to nonsyndromic abnormalities such as typical cleft lip with or without cleft palate. Abnormal jaw relationships, especially mandibular prognathism, are partially genetically determined. Novel genes that increase risk of being born with NSCL/P have been identified with Genome Wide Association Studies and targeted sequencing. Midline clefts have a different etiology and appearance than non‐syndromic cleft lip. Midline clefts are part of the midline deficiencies in holoprosencephaly.

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: Not applicable · Consensus signal: none
GenreCandidate signal: Other · Consensus signal: none
Teacher disagreement score0.016
Threshold uncertainty score0.054

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0020.001
Science and technology studies0.0010.001
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0160.003

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 head0.016
GPT teacher head0.293
Teacher spread0.277 · 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 designNot applicable
Domainnot available
GenreOther

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

Citations2
Published2017
Admission routes1
Has abstractyes

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