Journal of Medical Genetics 2008;45:249-254
LETTERS TO JMG
Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations
Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
Dr C Armour, Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada, K1H 8L1; carmour{at}cheo.on.ca
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.
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