ReviewRomanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
Cardiofaciocutaneous syndrome - a longitudinal study of a case over 33 years: case report and review of the literature.
Review in Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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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.
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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
8 citing papers in PubMed, 15 citations in OpenAlex.
- Epilepsy, Cognitive, and Behavioral Outcomes in Neurocutaneous Syndromes: A Comparative Review of NF1, TSC, and Sturge-Weber Syndrome.Children (Basel, Switzerland) · 2026Review
- sFlt-1/PlGF Ratio as a Central Biomarker for Preeclampsia and Perinatal Outcomes: A Multisystem Retrospective Cohort Study.Journal of clinical medicine · 2026Article
- Exploring the clinical complexity of cardio-facio-cutaneous syndrome: insights from a pediatric case series.Frontiers in pediatrics · 2024Article
- The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.Genes · 2023Review
- A Case Report of Cardiofaciocutaneous Syndrome withPharmacogenomics and personalized medicine · 2023Article
- A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant [Letter].Pharmacogenomics and personalized medicine · 2023Article
- Analysis of the Oral Microbiome in a Patient with Cardiofaciocutaneous Syndrome and Severe Periodontal Disease: Impact of Systemic Antibiotic Therapy.Antibiotics (Basel, Switzerland) · 2022Article
- Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene.Molecular genetics & genomic medicine · 2022Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cardiofaciocutaneous (CFC) syndrome [Online Mendelian Inheritance in Man (OMIM) #115150] is characterized by craniofacial dysmorphism, heart malformation, ectodermal abnormalities, neuromotor delay and intellectual disability. It is not a frequent disease, about 300 cases have been reported in the medical literature. We describe the case of a 34-year-old patient presenting with CFC syndrome phenotype, monitored since the age of 1 1∕2 years. Clinical findings included craniofacial dysmorphism, development delay, heart malformation and severe intellectual disability. The evolution was with progressive intellectual disability, hypogonadism, hypertrophic cardiomyopathy, wrinkled palms and soles. Molecular analysis showed a heterozygous variant in the B-Raf proto-oncogene, serine∕threonine kinase (BRAF) gene (7q34): NM_001354609.2:c.1502A>G, with pathogenic significance. We report this case, observed along a period of 33 years, for illustration of clinical evolutive particularities, and for difficulties in establishing the positive diagnosis.
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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.