ReviewAmerican family physician2012
When to suspect a genetic syndrome.
Review in American family physician, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- Unmasking JIA mimics: skeletal dysplasias in pediatric rheumatology.European journal of pediatrics · 2026Article
- Cost analysis of hospitalized children suspected of rare genetic diseases.Orphanet journal of rare diseases · 2026Article
- A brief clinical genetics review: stepwise diagnostic processes of a monogenic disorder-hypertriglyceridemia.Translational pediatrics · 2024Review
- Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation.European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie · 2024Observational
- Optimizing paediatric specialist referrals for short stature in an era of multiple growth hormone indications.Paediatrics & child health · 2024Article
- Neuropsychiatric Aspects of Sotos Syndrome: Explorative Review Building Multidisciplinary Bridges in Clinical Practice.Journal of clinical medicine · 2024Review
- Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.JAMA network open · 2024Article
- Delayed diagnosis and racial bias in children with genetic conditions.American journal of medical genetics. Part A · 2022Article
- Article
- Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review.Journal of pediatric genetics · 2021Review
- Genetic syndromes screening by facial recognition technology: VGG-16 screening model construction and evaluation.Orphanet journal of rare diseases · 2021Article
- Duration of the pubertal growth spurt in patients with increased craniofacial growth component in sagittal and vertical planes-retrospective and cross-sectional study.Clinical oral investigations · 2021Article
- Dysmorphology in the Era of Genomic Diagnosis.Journal of personalized medicine · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Family physicians should be able to recognize findings on physical examination and history that suggest the presence of a genetic syndrome to aid in the diagnosis and treatment of potentially affected patients, as well as subspecialty referral. General themes that can alert family physicians to the presence of genetic conditions include dysmorphic features that are evident on physical examination; multiple anomalies in one patient; unexplained neurocognitive impairment; and a family history that is suggestive of a hereditary disease. The presence of one obvious malformation should not limit the full evaluation, because additional, subtler findings will often be important in the differential diagnosis. Taking an accurate three-generation family history is invaluable when considering a genetic syndrome. Important elements include the age and sex of family members; when family members were affected by disease or when they died; the ethnic background; and if there is consanguinity. Genetic subspecialists can assist family physicians in diagnosis, suggest additional testing and referrals if warranted, help direct medical care, and provide counseling for affected patients and their families.
Indexed as
Identifiers
23113462PMC4131944W191022665What 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.