Klippel-Feil Syndrome Associated with Renal and Cardiac Anomalies in an Infant: A Case Report

Abstract

Klippel-Feil syndrome is a rare congenital bone disorder characterised by a triad of short neck, low posterior hairline and limited lateral bending of the neck with an annual incidence of 1 in 40,000 live births. It has remained an obscure term in the medical literature because of its variability in presentation and wide spectrum of anomalies involving multiple organ systems. It is unusual to find a case that has all three classical triad features. Here, we present a case of a 9-month-old infant who manifests not only all three classical triad features associated with Klippel-Feil syndrome but also demonstrates the presence of congenital heart disease, scoliosis, and renal ectopia. An early comprehensive evaluation of a suspected case is essential for diagnosis and counselling which impacts its prognosis, helps minimize social stigma and affords parents the opportunity to consider cosmetic surgery as an option, should they choose to pursue it.

Keywords

• case reports
• congenital
• heart diseases
• klippel-feil syndrome
• scoliosis