ObjectiveTo summarize the research progress in clinic, development, and genetics of the Klippel-Feil syndrome and its primary ear deformity. MethodsThe related 1iterature at home and abroad concerning the Klippel-Feil syndrome with ear malformation was reviewed, analyzed, and summarized. ResultsThe clinical manifestation and classification of Klippel-Feil syndrome are complicated. As one of the most important accompany malformations, ear deformity mainly leads to hearing impairment and abnormal appearance. However, it is still unclear exactly how the ear deformity forms in Klippel-Feil syndrome, and there is little deep study on the internal connection between the ear deformity and other malformations. The premise for the treatment of Klippel-Feil syndrome includes accurate diagnoses and comprehensive disease assessment, and multidisciplinary collaboration will be the important direction of clinical practice in the future. ConclusionEar malformation is one of the most important congenital dysplasias in the Klippel-Feil syndrome. Its etiology should be based on research in the development and genetic mechanism. And its diagnosis and treatment should be followed by multidisciplinary collaboration. It is important to pay attention to identifying with ear malformation in other syndromes as well.
ObjectiveTo introduce a new occipitocervical angle parameter, occipito-odontoid angle (O-Da), for predicting dysphagia after occipitocervical fusion (OCF) in patients with C2, 3 Klippel-Feil syndrome (KFS) and analyze its effectiveness. Methods A total of 119 patients met selective criteria between April 2010 and November 2019 were retrospectively included as the study subjects. There were 56 males and 63 females. The age ranged from 14 to 76 years, with a median age of 51 years. There were 44 cases of basilar invagination and 75 cases of atlantoaxial subluxation. Forty patients were combined with C2, 3 KFS. Seven patients underwent anterior decompression combined with posterior OCF and 112 patients underwent posterior OCF. The fixed segments were O-C2 in 36 cases, O-C3 in 51 cases, O-C4 in 25 cases, and O-C5 in 7 cases. All patients were followed up 21-136 months, with a median time of 79 months. The lateral cervical X-ray films before operation and at last follow-up were used to measure the occipital to C2 angle (O-C2a), the occipital and external acoustic meatus to axis angle (O-EAa), the occipital protuberance to axial angle (Oc-Axa), the O-Da, and the narrowest oropharyngeal airway space (nPAS). The differences of the above parameters between the last follow-up and the preoperative values were calculated (represented as dO-C2a, dO-EAa, dOc-Axa, dO-Da, and dnPAS). Patients were divided into two groups according to whether they suffered dysphagia after operation, and the differences in clinical data and radiographic parameters were compared between the two groups. The correlation between occipitocervical angle parameters and nPAS in 40 patients with C2, 3 KFS was analyzed respectively. In addition, sensitivity and specificity analyses were used to assess the effectiveness of dO-Da≤−5° for the prediction of postoperative dysphagia. ResultsThirty-one patients (26.1%) suffered dysphagia after OCF (dysphagia group), including 10 patients with C2, 3 KFS; no dysphagia occurred in 88 patients (non-dysphagia group). There was no significant difference in age, follow-up time, fixed segment, proportion of patients with rheumatoid arthritis, proportion of patients with atlantoaxial subluxation, and proportion of patients with C2, 3 KFS between the two groups (P>0.05). The proportion of female patients was significantly higher in dysphagia group than in non-dysphagia group (χ2=7.600, P=0.006). The difference in preoperative O-C2a between the two groups was significant (t=2.528, P=0.014). No significant differences were observed in preoperative O-EAa, Oc-Axa, O-Da, and nPAS (P>0.05). There was no significant difference in dO-C2a, dO-EAa, dOc-Axa, dO-Da, and dnPAS between the two groups (P>0.05). The dO-C2a, dO-EAa, dOc-Axa, and dO-Da were positively correlated with dnPAS in 40 patients with C2, 3 KFS (r=0.604, P<0.001; r=0.649, P<0.001; r=0.615, P<0.001; r=0.672, P<0.001). Taking dO-Da≤−5° as the standard, the sensitivity and specificity of dO-Da to predict postoperative dysphagia in patients with C2, 3 KFS were 80.0% (8/10) and 93.3% (28/30), respectively. ConclusionThe dO-Da is a reliable indicator for predicting dysphagia after OCF in patients with C2, 3 KFS.