ReviewCMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne2002
Medical genetics: 2. The diagnostic approach to the child with dysmorphic signs.
Review in CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 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
9 citing papers in PubMed, 25 citations in OpenAlex.
- Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.American journal of medical genetics. Part A · 2025Article
- Clinical and biochemical footprints of inherited metabolic diseases: XVII. Dysmorphisms.Molecular genetics and metabolism · 2025Article
- Volumetric Analyses of Dysmorphic Maxillofacial Structures Using 3D Surface-Based Approaches: A Scoping Review.Journal of clinical medicine · 2024Article
- Identifying pattern in global developmental delay children: A retrospective study at King Fahad specialist hospital, Dammam (Saudi Arabia).Pediatric reports · 2019Article
- Neurometabolic disorders and congenital malformations of the central nervous system.Neurosciences (Riyadh, Saudi Arabia) · 2018Review
- Genetic Approach to Diagnosis of Intellectual Disability.Indian journal of pediatrics · 2016Article
- Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.American journal of human genetics · 2014Article
- When to suspect a genetic syndrome.American family physician · 2012Review
- 48,XXYY in a General Adult Psychiatry Department.Psychiatry (Edgmont (Pa. : Township)) · 2010Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dysmorphology is the branch of clinical genetics in which clinicians and researchers study and attempt to interpret the patterns of human growth and structural defects. Reaching an accurate diagnosis for children with dysmorphic signs is important to their families, because it makes available all the accumulated knowledge about the relevant condition and may provide the family with the opportunity for interaction with patient or parent support groups. I show in this review that reaching a diagnosis in dysmorphology involves an approach that is not fundamentally different from that of other medical disciplines. Cytogenetic and molecular techniques continue to improve our ability to make precise syndrome diagnoses; however, these tests are expensive and should be used selectively.
Indexed as
Identifiers
12197694PMC117854W2144099466What 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.