Klippel-Feil Syndrome With Isolated Facial Dysmorphism: A Clinical Conundrum With Resemblance to Adenoid Facies

Abstract

Klippel-Feil syndrome (KFS) is a triad comprising cervical spine fusion, a low posterior hairline, and constrained neck movement. This triad is not universally present. The most frequent accompaniment is Sprengel's scapula deformity. According to the Feil classification, Class 1 (C1) is an immense fusion of many cervical vertebrae, Class 2 (C2) is a fusion of one or two vertebrae only, and Class 3 (C3) is coupled with thoracic and lumbar spinal vertebral fusion in addition to the fusion of the cervical vertebrae. Clarke's categorization of KFS includes other associated anomalies. The different classification systems for KFS have been made by the different specialists to whom patients may present, which include orthopedic surgeons, neurosurgeons, orthodontists, faciomaxillary surgeons, cardiologists, and pediatricians. This anomaly being rare and the lack of universally accepted classification may lead to confusion regarding the identification of the syndrome, especially the Clarke Type 3 with isolated facial dysmorphism may go undiagnosed. We report a case with KFS-Clarke Type 3 with isolated facial dysmorphism and Feil Type 2 with the fusion of C2-C3 cervical vertebrae, detected as an incidental radiologic finding, and initial impression of adenoid facies. Hence, this case also highlights the contrasting features between the facial dysmorphism of Clarke Type 3 KFS and adenoid facies.

Keywords: cervical vertebrae fusion; craniofacial dysmorphism; crowded dentition; klippel-feil syndrome; retrognathia.

Figure 1. Facial dysmorphism in the patient

Figure 2. CT of the paranasal sinus sagittal view showing the fusion of C2–C3 cervical vertebrae (marked by a red arrow)