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

@article{Armour2007FurtherDO,
  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},
  year={2007},
  volume={45},
  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… 
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TLDR
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TLDR
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TLDR
Fondazione Policlinico Universitario A. Gemelli, IRCCS https://orcid.org/0000-0002-4089-637X Domenico M Romeo policemenlinico universitario Agostino Gemelli Pelliccioni Michele Policlinicogemelli.
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TLDR
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
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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.
The cardiofaciocutaneous syndrome
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The clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness.
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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
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TLDR
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.
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TLDR
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
TLDR
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.
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TLDR
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.
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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.
TLDR
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.
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations
TLDR
The phenotypic spectrum associated withKRAS missense mutations was defined and the first evidence of clinical differences in patients with KRAS mutations compared with Noonan syndrome affected individuals with heterozygous PTPN11 mutations and CFC patients carrying a BRAF, MEK1 orMEK1 alteration, respectively were provided.
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