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CFC International Conference July 28-30, 2011 Rosemont, Illinois

History of CFC Syndrome. Giovanni Neri and Giorgia Mancano Institute of Medical Genetics Catholic University School of Medicine Rome, Italy. CFC International Conference July 28-30, 2011 Rosemont, Illinois. 1986. CFC patients (Reynolds et al., 1986). Montana, Fall of 1983. 1991.

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CFC International Conference July 28-30, 2011 Rosemont, Illinois

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  1. History of CFC Syndrome Giovanni Neri and Giorgia Mancano Institute of Medical Genetics Catholic University School of Medicine Rome, Italy CFC International Conference July 28-30, 2011 Rosemont, Illinois

  2. 1986

  3. CFC patients (Reynolds et al., 1986)

  4. Montana, Fall of 1983

  5. 1991

  6. 1999 Caring, Facilitating & Connecting

  7. 2000 FIRST INTERNATIONAL CFC CONFERENCE SALT LAKE CITY

  8. 2001

  9. 2003

  10. 2006

  11. 2006

  12. 2009

  13. uninjected BRAF wt BRAF Q257R 4hpf 12hpf 24hpf 48hpf 2009

  14. +/LSLV600E +/+ 2011

  15. 20?? • discovery of a cure for CFC syndrome • CI1040 • PD0325901

  16. Rauen et al, AJMG Part C, 2011

  17. Natural History of CFCS

  18. Perinatal Period • polyhydramnios (62-69%) • prematurity (49-52%) • macrosomia (34-35%) • hypotonia (79-86%) • congenital heart defect: • pulmonic stenosis (37-50%) • ASD (18-28%) • VSD (11-19%) • cryptorchidism (36-66%) percentages obtained from Allanson et al., AJMG Part C, 2011 percentages obtained from Allanson et al., AJMG Part C, 2011

  19. Infancy & Childhood-1 • failure to thrive (78-83%) • feeding difficulties (40-54%) • hypertrophic cardiomyopathy (24-38%) • skin involvement: • curly/sparse hair (77-93%) • absent/sparse eyebrows (78-81%) • keratosis pilaris (48-67%) • hyperkeratosis (43-46%) • nevi (36-42%) • deep palmar creases (38-47%) percentages obtained from Allanson et al., AJMG Part C, 2011

  20. Infancy & Childhood-2 • seizures (31-32%) • tactile defensiveness (80%) • musculoskeletal defects: • scoliosis (33-34%) • kyphosis (17-26%) • pectus deformities (44-63%) • developmental delay: • short stature (63%) • absolute macrocephaly (20-35%) • relative macrocephaly (67-69%) • intellectual disability (93-100%) percentages obtained from Allanson et al., AJMG Part C, 2011

  21. Adolcescence & Adulthood • no information about puberal development • worsening of musculo-skeletal manifestations? • premature aging? No evidenceofhigherincidenceoftumors

  22. Old Age • nothing known so far • urgent need to gather information

  23. Genotype-Phenotype Correlations Data obtained from Allanson et al., AJMG Part C, 2011

  24. thank you

  25. grazie

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