Klippel-Feil syndrome with multiple skeletal anomalies, Dandy-Walker spectrum, and occipital cephalocele\u2014a rare presentation

Abstract

BackgroundKlippel-Feil syndrome (KFS) is a congenital malformation causing fusion of at least two cervical vertebrae and characterized clinically by presence of triad of short neck, limited neck movements, and low posterior hair line. Various skeletal and non-skeletal anomalies may be seen in association with KFS.Case presentationWe present a case of 6-year-old boy of KFS with various skeletal anomalies such as multiple segmentation and formation anomalies of the spine including anomalies of craniovertebral junction (CVJ), spina bifida occulta, scoliosis, Sprengel deformity of right shoulder, and multiple rib anomalies, as well as neurological anomalies like Dandy-Walker spectrum and atretic occipital cephalocele.ConclusionTo the best of our knowledge, association of such extensive skeletal anomalies and Dandy-Walker spectrum with KFS has been uncommonly reported in the literature. This case highlights the importance of knowledge of various common and uncommon associations of KFS to avoid missing significant anomalies.