Cardiofaciocutaneous syndrome (CFCS) belongs to a group of developmental disorders due to defects in the Ras/Mitogen-Activated Protein Kinase (RAS/MAPK) signaling pathway named RASophaties. While postnatal presentation of these disorders is well known, the prenatal and neonatal characteristics are less recognized. Noonan syndrome, Costello syndrome, and CFCS diagnosis should be considered in pregnancies with a normal karyotype and in the case of ultrasound findings such as increased nuchal translucency, polyhydramnios, macrosomia and cardiac defect. Because all the RASopathies share similar clinical features, their molecular characterization is complex, time consuming and expensive. Here we report a case of CFCS prenatally diagnosed through Next Generation Prenatal Diagnosis (NGPD), a new targeted approach that allows us to concurrently investigate all the genes involved in the RASophaties.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4926485 | PMC |
| http://dx.doi.org/10.3390/ijms17060952 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Granulomatous Variant of Giant Centrifugal Miliaria Profunda in an 8-Month-Old Boy: Expanding the Dermatologic Phenotype of Cardiofaciocutaneous Syndrome.
Pediatr Dermatol
January 2025
Department of Child Health, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.
Miliarias are a group of eccrine disorders characterized by sweat retention due to the occlusion of eccrine ducts. Miliaria profunda is the rarest form of miliaria and occurs when eccrine ducts are obstructed at the dermal-epidermal junction. A granulomatous variant of centrifugal miliaria profunda classic findings of granulomatous infiltrate on histology and centrifugal expansion of deep nodules or plaques.
View Article and Find Full Text PDFExploring the clinical complexity of cardio-facio-cutaneous syndrome: insights from a pediatric case series.
Front Pediatr
May 2024
Department of General Medicine, Children's Hospital of Chongqing Medical University, Chongqing, China.
Background: Cardio-Facio-Cutaneous syndrome (CFCS) is a rare autosomal dominant genetic disorder primarily caused by BRAF gene mutations, posing diagnostic challenges due to its multifaceted clinical presentation.
Objective: To elucidate the clinical characteristics of pediatric CFCS patients, expanding the phenotypic spectrum to enhance early diagnostic capabilities, while also presenting the relationship between genotye and corresponding phenotype severity.
Methods: From January 2015 to March 2022, four children diagnosed with CFCS in Children's Hospital of Chongqing Medical University were included for analysis.
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
J Eur Acad Dermatol Venereol
September 2024
Department of Clinical Genetics, Pellegrin University Hospital of Bordeaux, Bordeaux, France.
Article Synopsis
- The study aimed to clarify the dermatological features of Costello syndrome (CS) and distinguish them from other similar syndromes like cardiofaciocutaneous syndrome (CFCS) and types of Noonan syndrome (NS).
- A ten-year multi-center study involving 31 patients found common skin and hair anomalies in CS, such as excessive eyebrows and various types of skin growths, which can help differentiate CS from CFCS and NS.
- The findings propose multiple melanocytic naevi as a potential marker for a milder form of CS and suggest that acitretin could be beneficial for treating certain skin conditions, although no clear genotype-phenotype link was identified.
Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.
ESC Heart Fail
April 2024
Centre for Inherited Cardiovascular Diseases, Department of Cardiology, Great Ormond Street Hospital, London, UK.
Article Synopsis
- - This study explored the long-term outcomes and factors that predict mortality in children under 18 with hypertrophic cardiomyopathy (HCM) associated with various RASopathy syndromes, including Noonan syndrome and others.
- - Researchers analyzed data from 149 patients over an average follow-up of about 16 years, finding that 15.43% of these children died, with survival rates differing significantly based on the specific RASopathy syndrome.
- - Key predictors of mortality and sudden cardiac death included the type of RASopathy, symptoms at diagnosis, heart failure presence, and certain heart function measurements, particularly highlighting a milder HCM type within Noonan-like syndrome that still had poorer survival rates.
Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication.
Am J Med Genet A
February 2024
Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.
Treatment-resistant epilepsy is among the most serious complications of cardiofaciocutaneous syndrome (CFCS), a rare disorder caused by germline variants in the RAS-MAPK signaling pathway. This study analyzed the clinical characteristics of epilepsy and response to anti-seizure medications (ASMs) in a multinational CFCS cohort. A caregiver survey provided data regarding seizure history, use of ASMs and other treatment approaches, adverse effects, caregiver perception of treatment response, and neurological disease burden impact among individuals with CFCS.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!