ReviewOrphanet journal of rare diseases2006
Congenital contractural arachnodactyly (Beals syndrome).
Review in Orphanet journal of rare diseases, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 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
32 citing papers in PubMed, 81 citations in OpenAlex.
- Two Novel FBN2 Variants Causing Congenital Contractural Arachnodactyly.Genetics research · 2026Article
- Article
- Spine deformity surgery in patients with Beals syndrome can be effectively performed but does risk revision surgery.Spine deformity · 2025Article
- Labor Analgesia in a Patient With Beals Syndrome: A Case Report of Management Challenges.Cureus · 2025Article
- Missense variants ofMolecular genetics and metabolism reports · 2024Article
- Heterogenic Genetic Background of Distal Arthrogryposis-Review of the Literature and Case Report.Children (Basel, Switzerland) · 2024Review
- Strategy for the Conservative Treatment of Type-III Camptodactyly in Children with Beals-Hecht Syndrome.Revista brasileira de ortopedia · 2024Article
- High-Throughput Genomics Identify NovelInternational journal of molecular sciences · 2024Article
- A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum.Genes · 2024Article
- Case report: Identification of novelFrontiers in genetics · 2023Article
- Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review.BMC medical genomics · 2022Review
- Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.American journal of medical genetics. Part A · 2021Article
- Article
- Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly.Molecular genetics & genomic medicine · 2021Article
- Congenital contractural arachnodactyly suspected by abnormally long extremities by fetal ultrasound.BMJ case reports · 2021Article
- Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.Orphanet journal of rare diseases · 2020Article
- A clinical scoring system for congenital contractural arachnodactyly.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- A Novel Splicing Mutation in theFrontiers in genetics · 2020Article
- Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly.BMC medical genetics · 2016Article
- The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy.Journal of assisted reproduction and genetics · 2016Article
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
No grant is acknowledged in the PubMed record.
Abstract
Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosome 5q23. Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially elbow, knee and finger joints), and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in Marfan syndrome. The incidence of CCA is unknown and its prevalence is difficult to estimate considering the overlap in phenotype with MFS; the number of patients reported has increased following the identification of FBN2 mutation. Molecular prenatal diagnosis is possible. Ultrasound imaging may be used to demonstrate joint contractures and hypokinesia in suspected cases. Management of children with CCA is symptomatic. Spontaneous improvement in camptodactyly and contractures is observed but residual camptodactyly always remains. Early intervention for scoliosis can prevent morbidity later in life. Cardiac evaluation and ophthalmologic evaluations are recommended.
Indexed as
Identifiers
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.