Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations

  title={Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations},
  author={Christine M Armour and Judith Allanson},
  journal={Journal of Medical Genetics},
  pages={249 - 254}
Background: Cardio-facio-cutaneous syndrome (CFC) is a multiple congenital anomaly/mental retardation syndrome named because of a characteristic facies, cardiac anomalies, and ectodermal abnormalities. While considerable literature describes the main features, few studies have documented the frequencies of less common features allowing a greater appreciation of the full phenotype. Methods: We have analysed clinical data on 38 individuals with CFC and a confirmed mutation in one of the genes… 
Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype?
This clinical study of 186 children and young adults with mutation‐proven CFC syndrome is the largest reported to date and provides new details of the breadth of phenotype and discusses the frequency of particular features in each genotypic group.
Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines
Experts in multiple medical specialties provided clinical management guidelines for pediatricians and other care providers that will assist in an accurate diagnosis of individuals with CFC, provide best practice recommendations, and facilitate long-term medical care.
Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literature.
FD is explored as a possible new clinical feature of CFC syndrome, and when linked to the historical case of OES, explores whether the KRAS(NM_004985.5):c.57G>C; p.Leu19Phe mutation may potentially contribute to the development of dysplastic bone lesions in patients with this particular mutation.
Cardio-Facio-Cutaneous Syndrome with Precocious Puberty, Growth Hormone Deficiency and Hyperprolactinemia
During his long-term follow-up, the patient developed a variety of endocrine disorders including precocious puberty, growth hormone deficiency and hyperprolactinemia.
Clinical and Molecular Characteristics of Cardio-facio-cutaneous Syndrome in Hong Kong Chinese
It can be concluded that the pattern of molecular defects and clinical characteristics of Chinese CFC patients are comparable with other populations without ethnic-specific difference.
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders
The results indicate that the molecular and clinical overlap between CFC and NS is more complex than previously suggested and that the syndromes might even represent allelic disorders.
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status
Fondazione Policlinico Universitario A. Gemelli, IRCCS https://orcid.org/0000-0002-4089-637X Domenico M Romeo policemenlinico universitario Agostino Gemelli Pelliccioni Michele Policlinicogemelli.
The perinatal presentation of cardiofaciocutaneous syndrome
This report includes novel features including systemic hypertension, hyponatremia, and chronic respiratory insufficiency, not previously reported in CFC, and provides pathologic diagnosis of loose anagen hair in one patient.
Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome
The perinatal presentation of 10 patients with Noonan syndrome, nine with Cardiofaciocutaneous syndrome, and three with Costello syndrome is reported on, in conjunction with the results of a comprehensive literature review.


New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome.
Eight patients (4 males, 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which was designated the Cardio-Facio-Cutaneous (CFC) syndrome
The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome.
Ophthalmic craniofacial abnormalities of hypoplastic supraorbital ridges, prominent epicanthal folds, and antimongoloid slant of the palpebral fissures were also common features contributing to the characteristic facies described for this syndrome.
Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype.
Controversy exists over the distinction between cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome (NS). Several authors have suggested that they are different phenotypes of the same
Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome
Winkled palms and soles, hyperpigmentation and joint hyperextension, which have been commonly reported in Costello syndrome but not in CFC syndrome, were observed in 30–40% of the mutation‐positive CFC patients, suggesting a significant clinical overlap between these two syndromes.
PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome
PTPN11 can be reasonably excluded as a candidate gene for the CFC syndrome, which is regarded as molecular evidence that CFC and Noonan syndromes are distinct genetic entities.
Further delineation of cardiac abnormalities in Costello syndrome.
All patients with Costello syndrome need a baseline cardiology evaluation with echocardiography and Holter monitoring, and additional prospective evaluations, even in patients without apparent cardiac abnormalities, would be prudent, although data are insufficient to propose a specific schedule.
The cardiofaciocutaneous syndrome
The clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness.
Leukemia in Cardio-facio-cutaneous (CFC) Syndrome: A Patient With a Germline Mutation in BRAF Proto-oncogene
Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by a distinctive facial appearance, ectodermal abnormalities, and heart defects.
Cardio-facio-cutaneous (CFC) syndrome: report of an adult without mental retardation.
The first case of CFC syndrome without mental retardation but typical cutaneous findings is reported, on a 25-year-old woman with typical manifestations of the cardio-facio-cutaneous (CFC) syndrome, but withoutmental retardation.
Cardio‐facio‐cutaneous (CFC) syndrome — a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome
Clinical findings of this condition such as: growth failure, heart defects, typical craniofacial appearance, ectodennal abnormalities, and developmental delay are presented.