Unveiling the Fusion: An Atypical Presentation of Klippel- Feil Syndrome

Klippel- Feil syndrome is a congenital condition characterized by the abnormal fusion of two or more cervical vertebrae, resulting in a short neck. The condition presents with a classical triad of a short neck, low posterior hairline and limited mobility of the neck.The condition has been associated with several spinal and extra-spinal anomalies. The diagnosis usually involves a comprehensive evaluation, including physical examination, radiological imaging and genetic studies. Treatment is usually conservative involving physical therapy and pain management. Here, we report a case of a 5 year old boy who presented to us with complaints of short stature and limited neck mobility. On examination the child had kypho-scoliosis, right sprengel deformity, low posterior hairline, short neck and limited neck mobility. MRI of cervical spine with whole spine screening was suggestive of congenital block vertebrae at C2 - C4 levels and localized area of myelomalacia within the posterior aspect of the cervical cord at C2, C3 levels with mild kypho-scoliosis of cervico-dorsal area. The child had no neurological or extraspinal involvement. The child was managed conservatively.