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10.1136/jmg.2007.054460

http://scihub22266oqcxt.onion/10.1136/jmg.2007.054460
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18039946!ä!18039946

suck abstract from ncbi


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pmid18039946      J+Med+Genet 2008 ; 45 (4): 249-54
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  • Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations #MMPMID18039946
  • Armour CM; Allanson JE
  • J Med Genet 2008[Apr]; 45 (4): 249-54 PMID18039946show ga
  • 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 known to cause the condition. We provide data on well-established features, and those that are less often described. RESULTS: Polyhydramnios (77%) and prematurity (49%) were common perinatal issues. 71% of individuals had a cardiac anomaly, the most common being pulmonary valve stenosis (42%), hypertrophic cardiomyopathy (39%), and atrial septal defect (28%). Hair anomalies were also typical: 92% had curly hair, 84% sparse hair, and 86% absent or sparse eyebrows. The most frequent cutaneous features were keratosis pilaris (73%), hyperkeratosis (61%) and nevi (76%). Significant and long lived gastrointestinal dysmotility (71%), seizures (49%), optic nerve hypoplasia (30%) and renal anomalies, chiefly hydronephrosis (20%), were among the less well known issues reported. CONCLUSION: This study reports a broad range of clinical issues in a large cohort of individuals with molecular confirmation of CFC.
  • |Abnormalities, Multiple/*genetics[MESH]
  • |Adolescent[MESH]
  • |Adult[MESH]
  • |Child[MESH]
  • |Child, Preschool[MESH]
  • |Cohort Studies[MESH]
  • |Craniofacial Abnormalities/*genetics[MESH]
  • |Ectodermal Dysplasia/*genetics[MESH]
  • |Female[MESH]
  • |Heart Defects, Congenital/*genetics[MESH]
  • |Humans[MESH]
  • |Infant[MESH]
  • |Infant, Newborn[MESH]
  • |Intellectual Disability/genetics[MESH]
  • |MAP Kinase Kinase 1/genetics[MESH]
  • |MAP Kinase Kinase 2/genetics[MESH]
  • |Male[MESH]
  • |Mutation[MESH]
  • |Phenotype[MESH]
  • |Pregnancy[MESH]
  • |Proto-Oncogene Proteins B-raf/genetics[MESH]
  • |Proto-Oncogene Proteins p21(ras)[MESH]
  • |Proto-Oncogene Proteins/genetics[MESH]
  • |Syndrome[MESH]


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