Diagnostic Importance of 3D CT Images in Klippel-Feil Syndrome with Multiple Skeletal Anomalies: A Case Report
نویسندگان
چکیده
We present here the case of a 12-year-old boy who had Klippel-Feil syndrome with renal, cardiac and multiple skeletal anomalies, and we show the relevent three-dimensional computed tomography images. Our patient had a triple renal pelvis, mitral valve prolapsus, multiple cervical vertebrae fusions, cervical ribs, hypoplasia of the right thumb, spina bifida of L5, lumbalization at the right side of S1 and a sacral curved defect. In this study, we discuss the atypical clinical features and the diagnostic value of three-dimensional CT for evaluating the skeletal anomalies of the Klippel-Feil syndrome cases.
منابع مشابه
Coexistence of Left Internal Carotid Agenesis, Klippel-Feil Syndrome and Postaxial Polydactyly
BACKGROUND Internal carotid artery agenesis is a rare anomaly that can be clinically asymptomatic. Klippel-Feil syndrome is a skeletal malformation characterized by vertebral fusion. Presence of postaxial polydactyly is suggestive of an underlying syndrome. CASE REPORT We report a rare case of a 44-year-old patient with non-specific symptoms and an association between these three rare abnorma...
متن کاملCervical instability in Klippel-Feil syndrome: case report and review of the literature
Background: The authors present a case of cervical myelopathy and radiculopathy in the setting of multiple Klippel-Feil syndrome abnormalities treated surgically with a single-level C3–C4 anterior cervical discectomy and fusion. We discuss the clinical presentation, radiographic findings, and various treatment options for cervical spine abnormalities in Klippel-Feil syndrome. Case Presentation:...
متن کاملA Rare Presentation of Os Odontoideum with Multiple Vertebral Fusion in Type III Klippel-Feil Syndrome (KFS) - A Case Report.
An abnormal atlas and axis with presence of os odontoideum and fusion of multiple vertebrae were noted in an intact skeleton, in the osteology museum of the Department of Anatomy of North Bengal Medical College, West Bengal, India.These multiple abnormalities at various levels along with increased thickness of antero-posterior arch of atlas pointed towards the congenital nature of the anomalies...
متن کاملKlippel – Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature
First time described in 1912, from Maurice Klippel and Andre Feil independently, Klippel-Feil syndrome (synonyms: cervical vertebra fusion syndrome, Klippel-Feil deformity, Klippel-Feil sequence disorder) is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae), which is present from birth. Three major features result from th...
متن کاملSpinal dermoid sinus in a Dachshund with vertebral and thoracic limb malformations
BACKGROUND Dermoid sinus is an uncommon epithelial-lined fistula that may be associated with vertebral malformations. In humans, Klippel-Feil syndrome (KFS) is a rare condition characterized by congenital cervical vertebral fusion and may be associated with other developmental defects, including dermoid sinus. The present case report describes an adult Dachshund with cervical and cranial thorac...
متن کامل