Article Text

PDF
Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations
  1. C M Armour,
  2. J E Allanson
  1. Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
  1. Dr C Armour, Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada, K1H 8L1; carmour{at}cheo.on.ca

Abstract

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.

Statistics from Altmetric.com

Footnotes

  • Competing interests: None declared.

  • Ethics approval: Ethics approval was obtained from the Children’s Hospital of Eastern Ontario Research Ethics Board.

  • Patient consent: Informed consent was obtained for the publication of the persons’ details in this report.

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.