Armour, C. M. & Allanson, J. E. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations. J. Med. Genet. 45, 249-254

ArticleinJournal of Medical Genetics 45(4):249-54 · May 2008with5 Reads
Impact Factor: 6.34 · DOI: 10.1136/jmg.2007.054460 · Source: PubMed

    Abstract

    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.
    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.
    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.
    This study reports a broad range of clinical issues in a large cohort of individuals with molecular confirmation of CFC.