ReviewJournal of family medicine and primary care2024
Treacher Collins syndrome: A comprehensive review on clinical features, diagnosis, and management.
Review in Journal of family medicine and primary care, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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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.
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Who cites it
7 citing papers in PubMed.
- Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome.Molecular genetics & genomic medicine · 2026Article
- Unveiling the Prevalence and Surgical Burden of Neurocristopathies: A Scoping Review and Statistical Analysis.Research square · 2026Article
- The Nucleolus in Human Disease: Ribosome Biogenesis, Nucleolar Surveillance, and Therapeutic Opportunities.Biomolecules · 2026Review
- Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.International journal of molecular sciences · 2026Article
- A novel pathogenic variant in POLR1D (c.220dup, p.His74ProfsTer8) causes Treacher Collins syndrome type 2 in a Chinese patient: a case report.BMC pediatrics · 2025Article
- Treacher-Collins Syndrome With Anorectal Malformation: A Rarity and a Challenge for the Surgical Team.Cureus · 2025Article
- Review
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Treacher Collins syndrome is a rare genetic disorder that affects the bone development, resulting in significant craniofacial deformities. The syndrome is characterized by cleft palate, micrognathia, low-set or small ears, and sparse eyelashes. These characteristic symptoms guide for the diagnosis. However, the manifestations may resemble other diseases, which makes the clinical diagnosis difficult. Although the majority of cases are clearly diagnosed at birth, genetic counseling and imaging scans, such as x-ray or computed tomography, may help to confirm the diagnosis. The severity of the disease varies among patients, ranging from mild undiagnosed cases to severe marked deformities. Nevertheless, airway difficulty at birth represents a significant challenge for anesthesiologists since these patients have abnormal development of zygomatic arch, which may result in airway complications. Therefore, proper management requires multidisciplinary departments, including pediatrics, neurosurgery, otolaryngology, audiology, plastic surgery, and genetics. Hence, it can be inherited in an autosomal dominant manner; genetic counseling is also needed.
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