Amyoplasia involving only the upper limbs or only involving the lower limbs with review of the relevant differential diagnoses
Bibliographic record
Abstract
Of individuals with Amyoplasia, 16.8% (94/560) involve only the upper limbs (Upper Limb Amyoplasia-ULA) and 15.2% (85/560) involve only the lower limbs (Lower Limb Amyoplasia-LLA). The accompanying paper deals with other forms of Amyoplasia [Hall et al., 2013] and discusses etiology. An excess of one of monozygotic (MZ) twins is seen in both groups (ULA 4/94 (4.3%), LLA 5/85 (5.9%)), gastrointestinal (GI) abnormalities thought to be of vascular origin (bowel atresia and gastroschisis) (ULA 16/94 (17%), LLA 4/85 (4.7%)), small or partial absence of digits (ULA 6/94 (6.2%), LLA 8/85 (9.4%)), and umbilical cord wrapping around the limbs at birth (ULA 3/94 (3.2%), LLA 7/85 (8.2%)) (severe enough to leave a permanent groove). Pregnancy complications occurred in 42/60 (70%) of ULA and 36/54 (67%) of LLA. Prenatal diagnosis, after ultrasound usage became routine, occurred in only 7/25 (28%) of ULA and 5/12 (12%) of LLA. This series may represent an over estimate of the complications and associations occurring in ULA and LLA. Differential diagnoses separating LLA from the genetic forms of "lower limb only" arthrogryposis and ULA from "upper limb only" genetic forms of arthrogryposis and Erb's palsy is provided.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.005 | 0.002 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 0.002 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".