ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2013
Facial dysostoses: Etiology, pathogenesis and management.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 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
54 citing papers in PubMed, 113 citations in OpenAlex.
- Signalling Pathways and Mechanical Forces Interact in Craniofacial Development and Homeostasis.International dental journal · 2026Review
- Epigenetic Signatures in Monozygotic and Dizygotic Twins Discordant for Orofacial Clefts.medRxiv : the preprint server for health sciences · 2026Article
- Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.International journal of molecular sciences · 2026Article
- Prenatal Ultrasound and Genetic Diagnosis ofThe application of clinical genetics · 2026Article
- Human stem cell model of neural crest cell differentiation reveals a requirement of SF3B4 in survival, maintenance, and differentiation.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
- Deletion of sf3b4 causes splicing defects and gene dysregulation that disrupt craniofacial development and survival.Disease models & mechanisms · 2025Article
- Miller's Syndrome with Bleeding Nasal Polyp.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2025Article
- Modeling craniofacial spliceosomopathies: a pathway toward deciphering disease mechanisms.Frontiers in cell and developmental biology · 2025Review
- The proteasome subunit psmb1 is essential for craniofacial cartilage maturation and morphogenesis.JCI insight · 2024Article
- Article
- Higher risk of respiratory infections and otitis media in cleft lip and/or palate patients: the Japan Environment and Children's Study.Environmental health and preventive medicine · 2024Article
- Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report.Balkan journal of medical genetics : BJMG · 2023Article
- Congenital Mandibular Hypoplasia: Patient-Specific Total Joint Replacement as a Line Extension in the Treatment of Complex Craniofacial Anomalies.Journal of maxillofacial and oral surgery · 2023Article
- Post-transcriptional regulation in cranial neural crest cells expands developmental potential.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Distinct Interaction Modes for the Eukaryotic RNA Polymerase Alpha-like Subunits.Molecular and cellular biology · 2023Article
- A clinically-relevant residue of POLR1D is required for Drosophila development.Developmental dynamics : an official publication of the American Association of Anatomists · 2022Article
- The Core Splicing Factors EFTUD2, SNRPB and TXNL4A Are Essential for Neural Crest and Craniofacial Development.Journal of developmental biology · 2022Article
- First case report of Nager syndrome patient from Georgia.SAGE open medical case reports · 2022Article
- Possible autosomal recessive inheritance in a neonate with Nager syndrome: Case report.Annals of medicine and surgery (2012) · 2021Article
- Function of chromatin modifier Hmgn1 during neural crest and craniofacial development.Genesis (New York, N.Y. : 2000) · 2021Article
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 2 institutions in 1 country.
Funding
Abstract
Approximately 1% of all live births exhibit a minor or major congenital anomaly. Of these approximately one-third display craniofacial abnormalities which are a significant cause of infant mortality and dramatically affect national health care budgets. To date, more than 700 distinct craniofacial syndromes have been described and in this review, we discuss the etiology, pathogenesis and management of facial dysostoses with a particular emphasis on Treacher Collins, Nager and Miller syndromes. As we continue to develop and improve medical and surgical care for the management of individual conditions, it is essential at the same time to better characterize their etiology and pathogenesis. Here we describe recent advances in our understanding of the development of facial dysostosis with a view towards early in utero identification and intervention which could minimize the manifestation of anomalies prior to birth. The ultimate management for any craniofacial anomaly however, would be prevention and we discuss this possibility in relation to facial dysostosis.
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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.