Moebius and Kallmann syndromes with diabetes insipidus:a phenotype of Fibroblast Growth Factor (FGF) 8 mutation
Bibliographic record
Abstract
Moebius syndrome is a rare congenital condition typically characterised by congenital facial and abducens nerve palsies. Dysfunction of other cranial nerves, malformations of orofacial structures, and limb anomalies may also be present. The aetiology is not well understood, but may relate to chromosomal abnormalities and exposure to teratogens and vascular events during gestation. Kallmann syndrome, on the other hand, consists of congenital hypogonadotropic hypogonadism and anosmia. It represents a form of isolated GnRH deficiency. There have been several reported cases of Moebius syndrome associated with Kallmann syndrome, with one reported case of Moebius syndrome with diabetes insipidus and another of Kallmann syndrome with diabetes insipidus. We report a 30-year-old man who was born with left lower motor neuron facial, abducens and oculomotor nerve palsies, dental agenesis, hypogonadotropic hypogonadism with bilateral cryptorchidism and micropenis. His developmental milestones were delayed. At the age of 10 years old, he had progressive hearing loss following recurrent bilateral otitis media with effusion. A year later he was diagnosed with central diabetes insipidus and noted to have anosmia and bilateral optic disc coloboma. The pituitary MRI findings were normal. This case illustrates a rare combination of Moebius and Kallmann syndromes with diabetes insipidus, which may well describe the FGF8 mutation in this patient.
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 distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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 teacher head, 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".