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Journal articles on the topic 'Cardiofaciocutaneous syndrome'

Author: Grafiati

Published: 4 June 2021

Last updated: 12 February 2022

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1

Modi, Ranjan, Pournima Patil, VeerappaA Kothiwale, and Mahesh Kamate. "Cardiofaciocutaneous syndrome." Journal of the Scientific Society 41, no. 3 (2014): 195. http://dx.doi.org/10.4103/0974-5009.141231.

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2

Thergaonkar, R. W., and Vivek Bhat. "Cardiofaciocutaneous syndrome." Medical Journal Armed Forces India 69, no. 2 (2013): 175–77. http://dx.doi.org/10.1016/j.mjafi.2012.08.001.

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3

Mathews, Carol A. "Cardiofaciocutaneous Syndrome." Archives of Dermatology 129, no. 1 (1993): 46. http://dx.doi.org/10.1001/archderm.1993.01680220058015.

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4

ADES, L. C., D. O. SILLENCE, and M. ROGERS. "Cardiofaciocutaneous syndrome." Clinical Dysmorphology 1, no. 3 (1992): 145???150. http://dx.doi.org/10.1097/00019605-199207000-00004.

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5

Roberts, A., J. Allanson, S. K. Jadico, et al. "The cardiofaciocutaneous syndrome." Journal of Medical Genetics 43, no. 11 (2006): 833–42. http://dx.doi.org/10.1136/jmg.2006.042796.

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6

Schepis, Carmelo, Donatella Greco, and Corrado Romano. "Cardiofaciocutaneous (CFC) syndrome." Australasian Journal of Dermatology 40, no. 2 (1999): 111–13. http://dx.doi.org/10.1046/j.1440-0960.1999.00333.x.

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7

Umnov, V. V., N. V. Nikitina, A. M. Khodorovskaya, and O. V. Barlova. "Cardiofaciocutaneus syndrome: literature review and case report." Neuromuscular Diseases 8, no. 4 (2019): 49–53. http://dx.doi.org/10.17650/2222-8721-2018-8-4-49-53.

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The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.

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8

Pavithra, S., H. Mallya, and GS Pai. "Cardiofaciocutaneous syndrome: A rare entity." Indian Journal of Dermatology 57, no. 4 (2012): 299. http://dx.doi.org/10.4103/0019-5154.97677.

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9

DeRoos, Steven T., Monique M. Ryan, and Robert A. Ouvrier. "Peripheral Neuropathy in Cardiofaciocutaneous Syndrome." Pediatric Neurology 36, no. 4 (2007): 250–52. http://dx.doi.org/10.1016/j.pediatrneurol.2006.12.004.

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10

Bessis, D., F. Morice‐Picard, E. Bourrat, et al. "Dermatological manifestations in cardiofaciocutaneous syndrome." British Journal of Dermatology 180, no. 1 (2019): e17-e17. http://dx.doi.org/10.1111/bjd.17371.

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11

Shionoya, Yoshiki, Maki Yamamoto, Katsuhisa Sunada, and Kiminari Nakamura. "Anesthetic Management of a Pediatric Patient With Cardiofaciocutaneous Syndrome." Anesthesia Progress 67, no. 1 (2020): 45–47. http://dx.doi.org/10.2344/anpr-67-01-07.

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Cardiofaciocutaneous (CFC) syndrome is a rare condition characterized by congenital heart disease, craniofacial dysmorphology, and dermatological abnormalities. CFC syndrome is one of the RASopathies, a family of syndromes that also includes Noonan and Costello syndromes, all with underlying gene mutations involving the Ras/mitogen-activated protein kinase pathways. Important considerations for anesthesiologists caring for these patients include the need to evaluate for possible cardiac defects, anticipating and planning for potentially difficult airway management, and the consideration of pot

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12

Turnpenny, P. D., J. C. Dean, I. A. Auchterlonie, and A. W. Johnston. "Cardiofaciocutaneous syndrome with new ectodermal manifestations." Journal of Medical Genetics 29, no. 6 (1992): 428–29. http://dx.doi.org/10.1136/jmg.29.6.428.

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13

Wong Ramsey, Kara N., Matthew H. Loichinger, Thomas P. Slavin, Sheree Kuo, and Laurie H. Seaver. "The perinatal presentation of cardiofaciocutaneous syndrome." American Journal of Medical Genetics Part A 164, no. 8 (2014): 2036–42. http://dx.doi.org/10.1002/ajmg.a.36558.

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14

Toole, J., S. Napier, and J. Marley. "An ameloblastoma associated with cardiofaciocutaneous syndrome." Oral Surgery 11, no. 1 (2017): 60–64. http://dx.doi.org/10.1111/ors.12287.

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15

Dunya, Ibrahim, Alexander Hoon, and Elias I. Traboulsi. "Retinal Dystrophy in the Cardiofaciocutaneous Syndrome." Journal of Pediatric Ophthalmology & Strabismus 30, no. 4 (1993): 264–65. http://dx.doi.org/10.3928/0191-3913-19930701-11.

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16

Schubbert, Suzanne, Gideon Bollag, Natalya Lyubynska, et al. "Biochemical and Functional Characterization of Germ Line KRAS Mutations." Molecular and Cellular Biology 27, no. 22 (2007): 7765–70. http://dx.doi.org/10.1128/mcb.00965-07.

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ABSTRACT Germ line missense mutations in HRAS and KRAS and in genes encoding molecules that function up- or downstream of Ras in cellular signaling networks cause a group of related developmental disorders that includes Costello syndrome, Noonan syndrome, and cardiofaciocutaneous syndrome. We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome. Mutant K-Ras proteins demonstrate a range of gain-of-function effects in different cell types, and biochemical analysis

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17

Law, K., Y. Ting, K. Cheng, R. Choy, and T. Leung. "P07.02: Prenatal ultrasound features of cardiofaciocutaneous syndrome." Ultrasound in Obstetrics & Gynecology 42, s1 (2013): 138. http://dx.doi.org/10.1002/uog.12999.

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18

Witters, I., E. Denayer, H. Brems, J. P. Fryns, and E. Legius. "The cardiofaciocutaneous syndrome: prenatal findings in two patients." Prenatal Diagnosis 28, no. 1 (2008): 53–55. http://dx.doi.org/10.1002/pd.1891.

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19

Joyce, Sarah, Kristiana Gordon, Glen Brice, et al. "The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome." European Journal of Human Genetics 24, no. 5 (2015): 690–96. http://dx.doi.org/10.1038/ejhg.2015.175.

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20

Lam, Humphrey, Shannon Dare, Thanh Nguyen, and Thomas Austin. "Anesthesia for a Pediatric Patient with Cardiofaciocutaneous Syndrome." A & A Case Reports 4, no. 7 (2015): 95–96. http://dx.doi.org/10.1213/xaa.0000000000000129.

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21

Kavamura, M. I., C. A. Peres, M. M. A. Alchorne, and D. Brunoni. "CFC index for the diagnosis of cardiofaciocutaneous syndrome." American Journal of Medical Genetics 112, no. 1 (2002): 12–16. http://dx.doi.org/10.1002/ajmg.10681.

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22

Patni, Nivedita, Abhimanyu Garg, and Chao Xing. "Diet-Responsive Hypercholesterolemia With Cardiofaciocutaneous Syndrome Type 3." Journal of the Endocrine Society 5, Supplement_1 (2021): A308. http://dx.doi.org/10.1210/jendso/bvab048.628.

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Abstract Background: Molecular basis of diet responsive hypercholesterolemia remains unclear. We report diet-responsive severe hypercholesterolemia in a young female with cardiofaciocutaneous syndrome type 3 (CFC3) due to a heterozygous pathogenic MAP2K1 variant, suggesting a role of common MAPK variants in LDL-cholesterol (LDL-C) response to diet. Clinical case: A 3-year-old Caucasian female with CFC3 (macrocephaly, frontal bossing, wide nasal root with depressed bridge, anteverted nares, low set fleshy ears, congenital pulmonic valve stenosis, postnatal growth deficiency, hypotonia, and neur

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23

Myers, Angela, Jonathan A. Bernstein, Marie-Luise Brennan, et al. "Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome." American Journal of Medical Genetics Part A 164, no. 11 (2014): 2814–21. http://dx.doi.org/10.1002/ajmg.a.36737.

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24

Johnson, Barbara, Dina Goldberg-Strassler, Karen Gripp, Mihr Thacker, Chiara Leoni, and David Stevenson. "Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome." American Journal of Medical Genetics Part A 167, no. 1 (2014): 40–44. http://dx.doi.org/10.1002/ajmg.a.36828.

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25

Sato, Sayuri, Tokimasa Hida, Masae Okura, Aki Ishikawa, and Toshiharu Yamashita. "An adult case of cardiofaciocutaneous syndrome with BRAF mutation." European Journal of Dermatology 27, no. 4 (2017): 412–13. http://dx.doi.org/10.1684/ejd.2017.3017.

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26

VAN DEN BERG, H., and R. C. M. HENNEKAM. "Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome." Journal of Medical Genetics 36, no. 10 (1999): 799–800. http://dx.doi.org/10.1136/jmg.36.10.799.

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27

Akahoshi, Shogo, Akinori Hirano, Hiroki Nagamine, and Masaru Miura. "Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium." American Journal of Medical Genetics Part A 182, no. 3 (2020): 532–35. http://dx.doi.org/10.1002/ajmg.a.61448.

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28

Işikay, Sedat, and Kadri Karaer. "Unusual hair findings in a child with cardiofaciocutaneous syndrome." International Journal of Dermatology 58, no. 3 (2018): 354–56. http://dx.doi.org/10.1111/ijd.14087.

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29

Ohtake, Akira, Yoko Aoki, Yuka Saito, et al. "Non-Hodgkin Lymphoma in a Patient With Cardiofaciocutaneous Syndrome." Journal of Pediatric Hematology/Oncology 33, no. 8 (2011): e342-e346. http://dx.doi.org/10.1097/mph.0b013e3181df5e5b.

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30

Aeby, A., Y. Sznajer, H. Cavé, et al. "Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency." Journal of Inherited Metabolic Disease 30, no. 5 (2007): 827. http://dx.doi.org/10.1007/s10545-007-0612-0.

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31

Kavamura, Maria Ines. "My memories of Professor Giovanni Neri: The cardiofaciocutaneous syndrome (CFC)." American Journal of Medical Genetics Part A 161, no. 11 (2013): 2707–9. http://dx.doi.org/10.1002/ajmg.a.36263.

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32

Cabrera, Sergio, Chantal Morel, and Maria Carmela Tartaglia. "Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome." American Journal of Medical Genetics Part A 170, no. 5 (2016): 1251–56. http://dx.doi.org/10.1002/ajmg.a.37552.

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33

Kavamura, M. I., M. G. Pomponi, M. Zollino, et al. "PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome." European Journal of Human Genetics 11, no. 1 (2003): 64–68. http://dx.doi.org/10.1038/sj.ejhg.5200911.

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34

Carcavilla, Atilano, Sixto García-Miñaúr, Antonio Pérez-Aytés, et al. "Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: Clinical and molecular findings in 11 patients." Medicina Clínica (English Edition) 144, no. 2 (2015): 67–72. http://dx.doi.org/10.1016/j.medcle.2014.06.002.

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35

Terry, Jefferson, Katherine A. Rauen, and Malgorzata J. M. Nowaczyk. "Fetal Autopsy Findings of Cardiofaciocutaneous Syndrome with a Unique BRAF Mutation." Pediatric and Developmental Pathology 17, no. 1 (2014): 59–63. http://dx.doi.org/10.2350/13-08-1365-cr.1.

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36

Ion, Andra, Marco Tartaglia, Xiaoling Song, et al. "Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome." Human Genetics 111, no. 4-5 (2002): 421–27. http://dx.doi.org/10.1007/s00439-002-0803-6.

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37

Welté, Nicolas, Mathieu Michaud, Xavier Iriart, and Jean-Benoit Thambo. "Electrocardiographic and echocardiographic findings in a cohort of patients with Costello Syndrome and Cardiofaciocutaneous Syndrome." Archives of Cardiovascular Diseases Supplements 9, no. 4 (2017): 288. http://dx.doi.org/10.1016/s1878-6480(17)30934-5.

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38

Welté, N., M. Michaud, X. Iriart, and J. Thambo. "Electrocardiographic and echocardiographic findings in a cohort of patients with Costello syndrome and Cardiofaciocutaneous syndrome." Archives of Cardiovascular Diseases Supplements 10, no. 1 (2018): 137. http://dx.doi.org/10.1016/j.acvdsp.2017.11.144.

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39

Rotman, Lauren E., James R. Hackney, Benjamin M. McGrew, Winfield S. Fisher, and Curtis J. Rozzelle. "Chondroblastoma-like mass of the temporal bone, secondary aneurysmal bone cyst, and intracerebral hemorrhage in a patient with cardiofaciocutaneous syndrome: case report." Journal of Neurosurgery: Pediatrics 24, no. 2 (2019): 153–58. http://dx.doi.org/10.3171/2019.3.peds18607.

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Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder that is phenotypically similar to Noonan syndrome and is associated with mutations in BRAF, MEK1, MEK2, and KRAS. The relationship between malignancy risk and CFCS is unclear with few cases published in the literature. The purpose of this paper is to describe the case of a patient with CFCS presenting in extremis as a result of a large intracerebral hemorrhage arising from a temporal bone mass with histopathology most consistent with chondroblastoma and secondary aneurysmal bone cyst. This is the first case to document an as

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40

Linden, Helen C., and Susan M. Price. "Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation." Clinical Dysmorphology 20, no. 2 (2011): 86–88. http://dx.doi.org/10.1097/mcd.0b013e32833ff29d.

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41

Pierpont, Elizabeth I., and Melinda Wolford. "Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience." American Journal of Medical Genetics Part A 170, no. 8 (2016): 1974–88. http://dx.doi.org/10.1002/ajmg.a.37725.

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42

Kavamura, M. I., M. Zollino, R. Lecce, et al. "Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients." American Journal of Medical Genetics 119A, no. 2 (2003): 177–79. http://dx.doi.org/10.1002/ajmg.a.10198.

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43

Gonnella, Gian Luigi, Pietro Paolo Giuri, Bruno Antonio Zanfini, et al. "Anesthesia management of pediatric dentistry patients with cardiofaciocutaneous syndrome: a case report." Brazilian Journal of Anesthesiology (English Edition) 71, no. 2 (2021): 178–80. http://dx.doi.org/10.1016/j.bjane.2020.10.013.

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44

Vallejos, Carla, Víctor Bolanos-Garcia, Diana Ponce, et al. "Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant." Journal of Pediatric Genetics 07, no. 04 (2018): 158–63. http://dx.doi.org/10.1055/s-0038-1653977.

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AbstractWe report the case of a 3-year-old girl, who is the third child of nonconsanguineous parents, with short stature, hypertrophic cardiomyopathy, and mild dysmorphic features; all suggestive of Noonan syndrome. In addition, the patient presents with feeding difficulties, deep palmar and plantar creases, sparse hair, and delayed psychomotor and language development, all characteristics frequently observed in cardiofaciocutaneous syndrome. Molecular analysis of the Ras/ MAPK pathway genes using high-resolution melting curve analysis and gene sequencing revealed a de novo KRAS amino acid sub

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45

Ganetsos, Athena, Ellyn Farrelly, Pilar Magoulas, and David A. Stevenson. "Stress and Coping in Caregivers of Children with RASopathies: Assessment of the Impact of Caregiver Conferences." Journal of Pediatric Genetics 09, no. 04 (2020): 235–42. http://dx.doi.org/10.1055/s-0040-1712178.

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AbstractThe study aimed to assess baseline stress and coping mechanisms among caregivers of children with RASopathies (i.e., cardiofaciocutaneous and Costello's syndrome) and the impact of attending biennial caregiver conferences. Caregivers completed the Perceived Stress Scale, Coping Health Inventory for Parents, and demographic surveys prior to family conferences, and 1- and 6-month postconferences. Baseline stress was increased and associated with child age, parental age, and number of conferences attended. After 1 month, caregiver stress was lowered among men and caregivers attending ≥2 s

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46

Manci, Elizabeth A., Jose E. Martinez, Marcelo G. Horenstein, et al. "Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: An autopsy study." American Journal of Medical Genetics Part A 137A, no. 1 (2005): 1–8. http://dx.doi.org/10.1002/ajmg.a.30834.

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47

Dell'Edera, Domenico, Lucantonio Debellis, Angela Mitidieri, Annunziata Anna Epifania, Eustachio Cuscianna, and Arianna Allegretti. "Cardiofaciocutaneous syndrome with rare structural variant in DOCK8 gene associated with neurodevelopmental disorders." Clinical Case Reports 8, no. 3 (2020): 539–44. http://dx.doi.org/10.1002/ccr3.2729.

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48

Jeffries, Michelle L., Kyrieckos A. Aleck, Richard A. Bernert, and Ronald C. Hansen. "Eccrine Squamous Metaplasia and Periadnexal Granulomas: New Cutaneous Histopathologic Findings in Cardiofaciocutaneous Syndrome." Pediatric Dermatology 27, no. 3 (2009): 274–78. http://dx.doi.org/10.1111/j.1525-1470.2009.00982.x.

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49

Bryan, Zachary T., Tricia A. Missall, Stacy Stieren, Elaine Siegfried, and Nicole M. Burkemper. "Clinicopathologic Evaluation of Cardiofaciocutaneous Syndrome: Overcoming the Challenges of Diagnosing a Rare Genodermatosis." Pediatric Dermatology 32, no. 1 (2014): e23-e28. http://dx.doi.org/10.1111/pde.12494.

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50

Журкова, Н. В., Л. А. Гандаева, А. А. Пушков, et al. "RASopathies in multidisciplinary pediatric hospita." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 8(217) (August 31, 2020): 21–23. http://dx.doi.org/10.25557/2073-7998.2020.08.21-23.

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RAS-патии - группа наследственных заболеваний, возникающая вследствие нарушения регуляции функции RAS/MAPK внутриклеточных путей (Ras/mitogen-activated protein kinase). Суммарная частота заболеваний данной группы - 1 случай на 1000 новорожденных. Наиболее часто среди RAS-патий встречается синдром Нунан. В настоящее время описано 13 генов, мутации которых отвечают за развитие данного заболевания, включая ген SHOC2, ассоциированный с Нунан-подобным синдромом и измененной структурой волос (Noonan-like syndrome with loose anagen hair) и ген LZTR1, мутации в котором приводят к развитию синдрома Нун

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