Sprengel’s deformity associated with Klippel-Feil syndrome and the importance of imaging studies
Keywords:
RARE DISEASES, PATIENTS.Abstract
Introduction: Sprengel’s deformity is considered a rare congenital skeletal disorder characterized by scapula elevation and its lateral rotation, with peri-scapular muscles, hypoplasia and atrophy causing deformation in this anatomical region with limitation of movements. It can be associated with Klippel-Fail Syndrome. Imaging studies are essential for its diagnosis.
Objective: to present a pediatric patient with Sprengel's deformity associated with Klippel-Fail syndrome, in which case the use of imaging studies was essential for the diagnosis.
Case Report: a three-year-old pediatric female patient, with short, wide and winged neck, she had serious difficulties for performing shoulders movements. Physical examination showed pterygium and asymmetry of the shoulder girdle, due to the elevation of the left scapula. Cervical spine and chest radiography were requested along with multislice tomography, where a fusion of the cervical spine bodies and elevated left scapula were found, this finding confirm the association of Sprengel’s deformity with Klippel-Fail syndrome.
Conclusions: images studies have a vital importance to complete a correct diagnosis in patients who present scapular asymmetry and shortening or any deformity of the cervical spine. These types of studies allow demonstrating pathological findings in this anatomical region. Simple radiographic studies are the choice to start the study. Multislice tomography is an effective tool given the new reconstruction techniques which facilitate the anatomical interpretation on these deformities.
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