Patil Nimisha, Jain Shraddha, Kumar Nikhil, Gemnani Rinkle
Otolaryngology - Head and Neck Surgery, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Orthodontics and Dentofacial Orthopedics, Kusum Devi Sunderlal Dugar Jain Dental College & Hospital, Kolkata, IND.
Cureus. 2024 Apr 17;16(4):e58466. doi: 10.7759/cureus.58466. eCollection 2024 Apr.
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.
克-费综合征(KFS)是一种三联征,包括颈椎融合、低位后发际线和颈部活动受限。这种三联征并非普遍存在。最常见的伴随症状是先天性高肩胛症。根据费尔分类法,1类(C1)是多个颈椎的广泛融合,2类(C2)仅是一个或两个椎体的融合,3类(C3)除颈椎融合外还伴有胸椎和腰椎椎体融合。克拉克对KFS的分类包括其他相关异常。针对KFS的不同分类系统由不同专科医生制定,患者可能会找这些专科医生看病,其中包括骨科医生、神经外科医生、正畸医生、颌面外科医生、心脏病专家和儿科医生。这种异常情况罕见,且缺乏普遍接受的分类,可能导致该综合征的识别出现混乱,特别是伴有孤立面部畸形的克拉克3型可能未被诊断出来。我们报告一例伴有孤立面部畸形的KFS-克拉克3型和C2-C3颈椎融合的费尔2型病例,该病例是偶然通过影像学检查发现的,最初印象为腺样体面容。因此,该病例也突出了克拉克3型KFS面部畸形与腺样体面容之间的对比特征。