cfc international conference july 28-30, 2011 rosemont, illinois
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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. - PowerPoint PPT PresentationTRANSCRIPT
CFC International Conference
July 28-30, 2011Rosemont, Illinois
Giovanni Neri and Giorgia MancanoInstitute of Medical GeneticsCatholic University School of
MedicineRome, Italy
History of CFC History of CFC SyndromeSyndrome
19861986
CFC patients (Reynolds et al., 1986)CFC patients (Reynolds et al., 1986)
Montana, Fall of 1983
19911991
19991999
CCaring, FFacilitating
& CConnecting
20002000
FIRST INTERNATIONAL CFC CONFERENCE SALT LAKE FIRST INTERNATIONAL CFC CONFERENCE SALT LAKE CITY CITY
20012001
20032003
20062006
20062006
2009
20092009
4hpf 12hpf 24hpf 48hpf
uninjected
BRAF wt
BRAF Q257R
20112011
+/+ +/LSLV600E
20??20??
discovery of a cure for CFC syndrome
CI1040 PD0325901
Rauen et al, AJMG Part C, 2011
Natural History of Natural History of CFCSCFCS
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%)
Perinatal PeriodPerinatal Period
percentages obtained from Allanson et al., AJMG Part C, 2011percentages obtained from Allanson et al., AJMG Part C, 2011
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%)
Infancy & Childhood-1Infancy & Childhood-1
percentages obtained from Allanson et al., AJMG Part C, 2011
Infancy & Childhood-2Infancy & 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
No evidence of higher incidence of tumorsNo evidence of higher incidence of tumors
Adolcescence & AdulthoodAdolcescence & Adulthood
no information about puberal
development
worsening of musculo-skeletal
manifestations?
premature aging?
Old AgeOld Age
nothing known so far
urgent need to gather
information
Genotype-Phenotype CorrelationsGenotype-Phenotype Correlations
BRAF MEK P-value
pulmonic stenosis 50% 37% 0.000363
curly / sparse hair 93% 77% 0.014
cryptorchidism 30% 66% 0.04
hydrocephalus 27% 0% > 0.05
intellectual disability
100% 93% > 0.05
pectus deformity 44% 63% > 0.05
Data obtained from Allanson et al., AJMG Part C, 2011