Sprengel`s Deformity Associated with Other Malformations

Background: Sprengel`s deformity (SD) is characterized by congenital elevation of the scapula and results in symptomatic cosmetic and functional disability. It is caused by failure of scapular descent during embryonic development. It is often associated with Klippel–Feil syndrome (KFS) and other congenital skeletal deformities. KFS is also associated with hearing impairment, congenital heart disease, lung defects, and genitourinary malformation.

Objective: Describing a clinical case of SD associated with KFS, renal and cardiac malformations.

Methods: Case reports

Results: We report a newborn female with prenatal diagnosis of left renal agenesis who physical examination showed a deformity in the upper part of the back with left shoulder higher than right, a hard swelling on palpation, a short-webbed neck and limited cervical mobility. In X-Ray we found a left SD with omovertebral bone and C5-C6 vertebral fusion and first and second rib malformations. To detect other malformations, cranial and abdominal ultrasound, hearing test and cardiac examination were requested. We found also a ventricular defect and confirm the left renal agenesis. Familial history was unremarkable for any congenital disorder. Surgery is generally considered for patients between 3 and 8 years of age who have moderate to severe disability. Although SD is rare associated in VACTERL syndrome, genetic study is still pending today.

Conclusion: Coexistence of KFS with SD and omovertebral bone is a rare complex bone abnormality. Proper diagnosis is essential because the condition can present with multiple associated abnormalities and lead to significant morbidity, so we must carry out a complete studymin order to rule out other entities that are not as evident as the elevation of the scapula. An early diagnosis in utero or, failing that, at birth, as well as early treatment, could prevent the appearance of secondary musculoskeletal disorders