Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cysts
Bibliographic record
Abstract
In 1998, Hisama et al. described three brothers born following pregnancies complicated by oligohydramnios in the second or third trimester. Post-natal renal functions were compromised, and post-mortem studies showed kidney tissue abnormalities. Resuscitation and support were required, and they survived 25 hr to 12 days. All boys had a similar craniofacial appearance with infraorbital creases, low set dysplastic ears, as well as athelia, and broad digits with small nails. Variably present features were choanal atresia, preauricular tags and pits, branchial clefts, ventricular septal defect, type IIB interrupted aortic arch, pulmonary lobation anomaly, absent gallbladder, absent thymus, absent parathyroid gland, accessory spleen, and imperforate anus. Their mother, maternal grandmother, and maternal first cousin had neck cysts removed as children. We describe a female infant born following a pregnancy where oligohydramnios developed between 27 and 33 weeks gestation. Renal function was initially impaired, but improved over the first weeks of life. There was however a persistent renal wasting of magnesium. Her craniofacial appearance with infraorbital creases and low set dysplastic ears was similar to the brothers' described by Hisama et al. [1998; Am J Med Genet 80:335-342]. She had choanal atresia, athelia, a preauricular pit, gingival cysts, broad digits with small nails, right aortic arch with a vascular ring, hypothyroidism, impaired glucose homeostasis, hypoadrenalism, neurological impairment, and brain calcifications on CT. She died after 13 weeks of intensive care. Her mother as a child and maternal grandfather as an adult had neck cysts removed. The similarities between the cases suggest a common syndrome.
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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) | 0.003 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.002 |
| Bibliometrics | 0.003 | 0.001 |
| Science and technology studies | 0.003 | 0.002 |
| Scholarly communication | 0.002 | 0.001 |
| Open science | 0.002 | 0.002 |
| Research integrity | 0.004 | 0.002 |
| Insufficient payload (model declined to judge) | 0.004 | 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".