Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines
Identifieur interne : 002C80 ( Main/Exploration ); précédent : 002C79; suivant : 002C81Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines
Auteurs : Mary Ella M. Pierpont [États-Unis] ; Pilar L. Magoulas [États-Unis] ; Saleh Adi [États-Unis] ; Maria Ines Kavamura [Brésil] ; Giovanni Neri [Italie] ; Jacqueline Noonan [États-Unis] ; Elizabeth I. Pierpont [États-Unis] ; Kent Reinker [États-Unis] ; Amy E. Roberts [États-Unis] ; Suma Shankar [Géorgie (pays)] ; Joseph Sullivan [États-Unis] ; Melinda Wolford [États-Unis] ; Brenda Conger [États-Unis] ; Molly Santa Cruz [États-Unis] ; Katherine A. Rauen [États-Unis]Source :
- Pediatrics [ 0031-4005 ] ; 2014.
Abstract
Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. It is essential that this condition be differentiated from other RASopathies, as a correct diagnosis is important for appropriate medical management and determining recurrence risk. Children and adults with CFC require multidisciplinary care from specialists, and the need for comprehensive management has been apparent to families and health care professionals caring for affected individuals. To address this need, CFC International, a nonprofit family support organization that provides a forum for information, support, and facilitation of research in basic medical and social issues affecting individuals with CFC, organized a consensus conference. Experts in multiple medical specialties provided clinical management guidelines for pediatricians and other care providers. These guidelines will assist in an accurate diagnosis of individuals with CFC, provide best practice recommendations, and facilitate long-term medical care.
Url:
DOI: 10.1542/peds.2013-3189
PubMed: 25180280
PubMed Central: 4179092
Affiliations:
- Brésil, Géorgie (pays), Italie, États-Unis
- Californie, Kentucky, Latium, Massachusetts, Minnesota, Ohio, Texas, État de New York, État de São Paulo
- Rome, São Paulo
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Le document en format XML
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Roberts</name><affiliation wicri:level="2"><nlm:aff id="aff10">Department of Cardiology and Division of Genetics, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Cardiology and Division of Genetics, Boston Children’s Hospital and Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Shankar, Suma" sort="Shankar, Suma" uniqKey="Shankar S" first="Suma" last="Shankar">Suma Shankar</name><affiliation wicri:level="1"><nlm:aff id="aff11">Departments of Human Genetics and Ophthalmology, Emory University School of Medicine, Atlanta, Georgia;</nlm:aff><country xml:lang="fr">Géorgie (pays)</country><wicri:regionArea>Departments of Human Genetics and Ophthalmology, Emory University School of Medicine, Atlanta</wicri:regionArea><wicri:noRegion>Atlanta</wicri:noRegion></affiliation></author><author><name sortKey="Sullivan, Joseph" sort="Sullivan, Joseph" uniqKey="Sullivan J" first="Joseph" last="Sullivan">Joseph Sullivan</name><affiliation wicri:level="2"><nlm:aff id="aff12">Departments of Neurology and Pediatrics, University of California at San Francisco, San Francisco, California;</nlm:aff><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Departments of Neurology and Pediatrics, University of California at San Francisco, San Francisco</wicri:cityArea></affiliation></author><author><name sortKey="Wolford, Melinda" sort="Wolford, Melinda" uniqKey="Wolford M" first="Melinda" last="Wolford">Melinda Wolford</name><affiliation wicri:level="2"><nlm:aff id="aff13">Department of Counseling, Special Education and School Psychology, Youngstown State University, Youngstown, Ohio;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Department of Counseling, Special Education and School Psychology, Youngstown State University, Youngstown</wicri:cityArea></affiliation></author><author><name sortKey="Conger, Brenda" sort="Conger, Brenda" uniqKey="Conger B" first="Brenda" last="Conger">Brenda Conger</name><affiliation wicri:level="2"><nlm:aff wicri:cut="; and" id="aff14">CFC International, Vestal, New York</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>CFC International, Vestal</wicri:cityArea></affiliation></author><author><name sortKey="Santa Cruz, Molly" sort="Santa Cruz, Molly" uniqKey="Santa Cruz M" first="Molly" last="Santa Cruz">Molly Santa Cruz</name><affiliation wicri:level="2"><nlm:aff wicri:cut="; and" id="aff14">CFC International, Vestal, New York</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>CFC International, Vestal</wicri:cityArea></affiliation></author><author><name sortKey="Rauen, Katherine A" sort="Rauen, Katherine A" uniqKey="Rauen K" first="Katherine A." last="Rauen">Katherine A. 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Pierpont</name><affiliation><nlm:aff wicri:cut=", and" id="aff1">Division of Genetics and Metabolism, Department of Pediatrics and Ophthalmology</nlm:aff><wicri:noCountry code="subfield">Department of Pediatrics and Ophthalmology</wicri:noCountry></affiliation><affiliation wicri:level="2"><nlm:aff id="aff3">Children’s Hospitals and Clinics of Minnesota, Saint Paul, Minnesota;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Minnesota</region></placeName><wicri:cityArea>Children’s Hospitals and Clinics of Minnesota, Saint Paul</wicri:cityArea></affiliation></author><author><name sortKey="Magoulas, Pilar L" sort="Magoulas, Pilar L" uniqKey="Magoulas P" first="Pilar L." last="Magoulas">Pilar L. Magoulas</name><affiliation wicri:level="2"><nlm:aff id="aff4">Department of Molecular and Human Genetics, Texas Children’s Hospital and Baylor College of Medicine, Houston, Texas;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Texas Children’s Hospital and Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Adi, Saleh" sort="Adi, Saleh" uniqKey="Adi S" first="Saleh" last="Adi">Saleh Adi</name><affiliation wicri:level="2"><nlm:aff id="aff5">Madison Clinic for Pediatric Diabetes, Benioff Children’s Hospital and University of California at San Francisco, San Francisco, California;</nlm:aff><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Madison Clinic for Pediatric Diabetes, Benioff Children’s Hospital and University of California at San Francisco, San Francisco</wicri:cityArea></affiliation></author><author><name sortKey="Kavamura, Maria Ines" sort="Kavamura, Maria Ines" uniqKey="Kavamura M" first="Maria Ines" last="Kavamura">Maria Ines Kavamura</name><affiliation wicri:level="3"><nlm:aff id="aff6">Medical Genetics Center, Federal University of Sao Paulo, Sao Paulo, Brazil;</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Medical Genetics Center, Federal University of Sao Paulo, Sao Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Neri, Giovanni" sort="Neri, Giovanni" uniqKey="Neri G" first="Giovanni" last="Neri">Giovanni Neri</name><affiliation wicri:level="3"><nlm:aff id="aff7">Institute of Medical Genetics, A Gemelli School of Medicine, Catholic University, Rome, Italy;</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Medical Genetics, A Gemelli School of Medicine, Catholic University, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Noonan, Jacqueline" sort="Noonan, Jacqueline" uniqKey="Noonan J" first="Jacqueline" last="Noonan">Jacqueline Noonan</name><affiliation wicri:level="2"><nlm:aff id="aff8">Department of Pediatrics, University of Kentucky, Lexington, Kentucky;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Kentucky</region></placeName><wicri:cityArea>Department of Pediatrics, University of Kentucky, Lexington</wicri:cityArea></affiliation></author><author><name sortKey="Pierpont, Elizabeth I" sort="Pierpont, Elizabeth I" uniqKey="Pierpont E" first="Elizabeth I." last="Pierpont">Elizabeth I. Pierpont</name><affiliation wicri:level="2"><nlm:aff id="aff2">Division of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Minnesota</region></placeName><wicri:cityArea>Division of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis</wicri:cityArea></affiliation></author><author><name sortKey="Reinker, Kent" sort="Reinker, Kent" uniqKey="Reinker K" first="Kent" last="Reinker">Kent Reinker</name><affiliation wicri:level="2"><nlm:aff id="aff9">Department of Orthopedics, University of Texas Health Sciences Center, San Antonio, Texas;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Orthopedics, University of Texas Health Sciences Center, San Antonio</wicri:cityArea></affiliation></author><author><name sortKey="Roberts, Amy E" sort="Roberts, Amy E" uniqKey="Roberts A" first="Amy E." last="Roberts">Amy E. Roberts</name><affiliation wicri:level="2"><nlm:aff id="aff10">Department of Cardiology and Division of Genetics, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Cardiology and Division of Genetics, Boston Children’s Hospital and Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Shankar, Suma" sort="Shankar, Suma" uniqKey="Shankar S" first="Suma" last="Shankar">Suma Shankar</name><affiliation wicri:level="1"><nlm:aff id="aff11">Departments of Human Genetics and Ophthalmology, Emory University School of Medicine, Atlanta, Georgia;</nlm:aff><country xml:lang="fr">Géorgie (pays)</country><wicri:regionArea>Departments of Human Genetics and Ophthalmology, Emory University School of Medicine, Atlanta</wicri:regionArea><wicri:noRegion>Atlanta</wicri:noRegion></affiliation></author><author><name sortKey="Sullivan, Joseph" sort="Sullivan, Joseph" uniqKey="Sullivan J" first="Joseph" last="Sullivan">Joseph Sullivan</name><affiliation wicri:level="2"><nlm:aff id="aff12">Departments of Neurology and Pediatrics, University of California at San Francisco, San Francisco, California;</nlm:aff><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Departments of Neurology and Pediatrics, University of California at San Francisco, San Francisco</wicri:cityArea></affiliation></author><author><name sortKey="Wolford, Melinda" sort="Wolford, Melinda" uniqKey="Wolford M" first="Melinda" last="Wolford">Melinda Wolford</name><affiliation wicri:level="2"><nlm:aff id="aff13">Department of Counseling, Special Education and School Psychology, Youngstown State University, Youngstown, Ohio;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Department of Counseling, Special Education and School Psychology, Youngstown State University, Youngstown</wicri:cityArea></affiliation></author><author><name sortKey="Conger, Brenda" sort="Conger, Brenda" uniqKey="Conger B" first="Brenda" last="Conger">Brenda Conger</name><affiliation wicri:level="2"><nlm:aff wicri:cut="; and" id="aff14">CFC International, Vestal, New York</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>CFC International, Vestal</wicri:cityArea></affiliation></author><author><name sortKey="Santa Cruz, Molly" sort="Santa Cruz, Molly" uniqKey="Santa Cruz M" first="Molly" last="Santa Cruz">Molly Santa Cruz</name><affiliation wicri:level="2"><nlm:aff wicri:cut="; and" id="aff14">CFC International, Vestal, New York</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>CFC International, Vestal</wicri:cityArea></affiliation></author><author><name sortKey="Rauen, Katherine A" sort="Rauen, Katherine A" uniqKey="Rauen K" first="Katherine A." last="Rauen">Katherine A. Rauen</name><affiliation wicri:level="2"><nlm:aff id="aff15">Division of Genomic Medicine, Department of Pediatrics, UC Davis MIND Institute, University of California at Davis, Sacramento, California</nlm:aff><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Division of Genomic Medicine, Department of Pediatrics, UC Davis MIND Institute, University of California at Davis, Sacramento</wicri:cityArea></affiliation></author></analytic><series><title level="j">Pediatrics</title><idno type="ISSN">0031-4005</idno><idno type="eISSN">1098-4275</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. It is essential that this condition be differentiated from other RASopathies, as a correct diagnosis is important for appropriate medical management and determining recurrence risk. Children and adults with CFC require multidisciplinary care from specialists, and the need for comprehensive management has been apparent to families and health care professionals caring for affected individuals. To address this need, CFC International, a nonprofit family support organization that provides a forum for information, support, and facilitation of research in basic medical and social issues affecting individuals with CFC, organized a consensus conference. Experts in multiple medical specialties provided clinical management guidelines for pediatricians and other care providers. These guidelines will assist in an accurate diagnosis of individuals with CFC, provide best practice recommendations, and facilitate long-term medical care.</p></div></front></TEI><affiliations><list><country><li>Brésil</li><li>Géorgie (pays)</li><li>Italie</li><li>États-Unis</li></country><region><li>Californie</li><li>Kentucky</li><li>Latium</li><li>Massachusetts</li><li>Minnesota</li><li>Ohio</li><li>Texas</li><li>État de New York</li><li>État de São Paulo</li></region><settlement><li>Rome</li><li>São Paulo</li></settlement></list><tree><country name="États-Unis"><region name="Minnesota"><name sortKey="Pierpont, Mary Ella M" sort="Pierpont, Mary Ella M" uniqKey="Pierpont M" first="Mary Ella M." last="Pierpont">Mary Ella M. Pierpont</name></region><name sortKey="Adi, Saleh" sort="Adi, Saleh" uniqKey="Adi S" first="Saleh" last="Adi">Saleh Adi</name><name sortKey="Conger, Brenda" sort="Conger, Brenda" uniqKey="Conger B" first="Brenda" last="Conger">Brenda Conger</name><name sortKey="Magoulas, Pilar L" sort="Magoulas, Pilar L" uniqKey="Magoulas P" first="Pilar L." last="Magoulas">Pilar L. Magoulas</name><name sortKey="Noonan, Jacqueline" sort="Noonan, Jacqueline" uniqKey="Noonan J" first="Jacqueline" last="Noonan">Jacqueline Noonan</name><name sortKey="Pierpont, Elizabeth I" sort="Pierpont, Elizabeth I" uniqKey="Pierpont E" first="Elizabeth I." last="Pierpont">Elizabeth I. Pierpont</name><name sortKey="Rauen, Katherine A" sort="Rauen, Katherine A" uniqKey="Rauen K" first="Katherine A." last="Rauen">Katherine A. Rauen</name><name sortKey="Reinker, Kent" sort="Reinker, Kent" uniqKey="Reinker K" first="Kent" last="Reinker">Kent Reinker</name><name sortKey="Roberts, Amy E" sort="Roberts, Amy E" uniqKey="Roberts A" first="Amy E." last="Roberts">Amy E. Roberts</name><name sortKey="Santa Cruz, Molly" sort="Santa Cruz, Molly" uniqKey="Santa Cruz M" first="Molly" last="Santa Cruz">Molly Santa Cruz</name><name sortKey="Sullivan, Joseph" sort="Sullivan, Joseph" uniqKey="Sullivan J" first="Joseph" last="Sullivan">Joseph Sullivan</name><name sortKey="Wolford, Melinda" sort="Wolford, Melinda" uniqKey="Wolford M" first="Melinda" last="Wolford">Melinda Wolford</name></country><country name="Brésil"><region name="État de São Paulo"><name sortKey="Kavamura, Maria Ines" sort="Kavamura, Maria Ines" uniqKey="Kavamura M" first="Maria Ines" last="Kavamura">Maria Ines Kavamura</name></region></country><country name="Italie"><region name="Latium"><name sortKey="Neri, Giovanni" sort="Neri, Giovanni" uniqKey="Neri G" first="Giovanni" last="Neri">Giovanni Neri</name></region></country><country name="Géorgie (pays)"><noRegion><name sortKey="Shankar, Suma" sort="Shankar, Suma" uniqKey="Shankar S" first="Suma" last="Shankar">Suma Shankar</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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