Bisht Roy U, Van Tassel Dane C, Belthur Mohan V
University of Arizona College of Medicine - Phoenix, 475 N. 5th St., Phoenix, AZ 85004, United States of America.
Dept. of Radiology, Phoenix Children's Hospital, 1919 E. Thomas Rd., Phoenix, AZ 85016, United States of America.
Clin Imaging. 2022 Jun;86:94-97. doi: 10.1016/j.clinimag.2022.03.019. Epub 2022 Mar 30.
We present a case of spondyloepiphyseal dysplasia congenita (SEDC), a rare autosomal dominant genetic disorder that results in short stature and skeletal anomalies. Children with SEDC have disproportionate short-trunked short stature, platyspondyly, coxa vara, and epiphyseal involvement. Those with coxa vara can develop osteoarthritis of the hip early and a valgus hip osteotomy is recommended to preserve hip function and delay progression to osteoarthritis. Surgery is difficult due to the three-dimensional deformity, unossified femoral head, and small patient size. In this case, a patient-specific surgical plan and implant sizing was developed using a composite 3D reconstruction from computed tomography (CT) and magnetic resonance imaging (MRI). The complementary use of both modalities allowed for a complete visualization of the patient's dysplastic femoral head & neck anatomy.
