EP09.30: Prenatal presentation of a rare genetic condition: a case report of <scp>CCF</scp>
Bibliographic record
Abstract
The clubfoot congenital with or without deficiency of the long bones and/or mirror image polydactyly (CCF) syndrome is a rare genetic condition. We report the case of a 30-year-old patient referred to our tertiary care centre for elevated AFP (2.56 MoM) in the second trimester. Many fetal anomalies were noticed at the 18th-week ultrasound, mainly affecting the heart and lower limbs which were in jackknife position. A single 10th percentile bone was found in each leg. Both feet were totally inverted and hyperflexed in relation to the leg. There was an abnormal position of the great cardiac vessels and a possible IVC. The CGH analysis revealed a 46XY fetus with interstitial deletion on chromosome 5 (5 q31. 1q32). The PITX1 gene mutation on this chromosome is associated with CCF. After medical termination of pregnancy at 19 weeks, an autopsy revealed tibial agenesia with peroneal incurvation, preaxial polydactyly of the left foot, craniofacial dysmorphism with microcephaly, cleft palate and visceral anomalies (microcolon and renal hypoplasia). CCF is an autosomal dominant syndrome with incomplete penetrance. An increased prevalence is found in males and in fetuses exposed to maternal smoking. Clubfoot can be isolated or associated with other anomalies, as seen on this case. Supporting information can be found in the online version of this abstract Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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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 | 0.003 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.005 | 0.002 |
| Insufficient payload (model declined to judge) | 0.005 | 0.001 |
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".