ReviewChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2019
Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology.
Review in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 18 citations in OpenAlex.
- Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report.Clinical medicine insights. Case reports · 2025Article
- An early prenatal diagnosis of type III Pfeiffer syndrome: a case description.Quantitative imaging in medicine and surgery · 2024Article
- Infigratinib, a selective FGFR1-3 tyrosine kinase inhibitor, alters dentoalveolar development at high doses.Developmental dynamics : an official publication of the American Association of Anatomists · 2023Article
- De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome.Case reports in genetics · 2022Article
- Effect of Fibroblast Growth Factor 2 on Extraocular Muscle Structure and Function.Investigative ophthalmology & visual science · 2021Article
- Pfeiffer Syndrome: A Therapeutic Algorithm Based on a Modified Grading Scale.Plastic and reconstructive surgery. Global open · 2020Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionPfeiffer syndrome is a rare autosomal dominant inherited disorder associated with craniosynostosis, midfacial hypoplasia, and broad thumbs and toes. The syndrome has been divided into three clinical subtypes based on clinical findings.
methodsThis review will specifically examine the most severe type, Pfeiffer syndrome type 2, focusing on its genetics and molecular biology.
conclusionThis subtype of the syndrome is caused by de novo sporadic mutations, the majority of which occur in the fibroblast growth factor receptor type 1 and 2 (FGFR1/2) genes. There is not one specific mutation, however. This disorder is genetically heterogeneous and may have varying phenotypic expressions that in various cases have overlapped with other similar craniosynostoses. A specific missense mutation of FGFR2 causing both Pfeiffer and Crouzon syndromes has been identified, with findings suggesting that gene expression may be affected by polymorphism within the same gene. Compared to other craniosynostosis-related disorders, Pfeiffer syndrome is the most extreme phenotype, as the underlying mutations cause wider effects on the secondary and tertiary protein structures and exhibit harsher clinical findings.
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