ReviewOrphanet journal of rare diseases2021
A framework for the evaluation of patients with congenital facial weakness.
Review in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03059420 (Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders), which is not on this map. Cited by 5 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
Who cites it
5 citing papers in PubMed, 13 citations in OpenAlex.
- Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2026Article
- Non-Surgical Correction of Facial Asymmetry: A Narrative Review of Non-Surgical Modalities and Clinical Case Examples.Journal of clinical medicine · 2025Review
- Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.European journal of human genetics : EJHG · 2025Article
- Systematic phenotype and genotype characterization of Moebius syndrome.Genetics in medicine open · 2025Article
- Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness.International journal of environmental research and public health · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
There is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congenital facial weakness disorders to enable accurate diagnosis. The core categories of causes of congenital facial weakness include: neurogenic, neuromuscular junction, myopathic, and other. This diagnostic algorithm is presented, and physical exam considerations, additional follow-up studies and/or consultations, and appropriate genetic testing are discussed in detail. This framework should enable clinical geneticists, neurologists, and other rare disease specialists to feel prepared when encountering this patient population and guide diagnosis, genetic counseling, and clinical care.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.