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  • Title: Spondyloepiphyseal dysplasia congenita: Use of complementary 3D reconstruction imaging for preoperative planning.
    Author: Bisht RU, Van Tassel DC, Belthur MV.
    Journal: Clin Imaging; 2022 Jun; 86():94-97. PubMed ID: 35397299.
    Abstract:
    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.
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