title: Common Patterns of Congenital Lower Extremity Shortening: Diagnosis, Classification, and Follow-up.
abstract: Congenital lower limb shortening is a group of relatively rare, heterogeneous disorders. Proximal focal femoral deficiency (PFFD) and fibular hemimelia (FH) are the most common pathologic entities in this disease spectrum. PFFD is characterized by variable degrees of shortening or absence of the femoral head, with associated dysplasia of the acetabulum and femoral shaft. FH ranges from mild hypoplasia to complete absence of the fibula with variable shortening of the tibia. The development of the lower limb requires complex and precise gene interactions. Although the etiologies of PFFD and FH remain unknown, there is a strong association between the two disorders. Associated congenital defects in the lower extremity are found in more than 50% of patients with PFFD, ipsilateral FH being the most common. FH also has a strong association with shortening and bowing of the tibia and with foot deformities such as absence of the lateral rays of the foot. Early diagnosis and radiologic classification of these abnormalities are imperative for appropriate management and surgical planning. Plain radiography remains the main diagnostic imaging modality for both PFFD and FH, and appropriate description of the osseous abnormalities seen on radiographs allows accurate classification, prognostic evaluation, and surgical planning. Minor malformations may commonly be misdiagnosed.
authors.affiliation: From the Departments of Radiology (M.A.B., N.A.C., D.J., V.H.F.) and Orthopaedic Surgery (R.D., B.D.H.), The Children's Hospital of Philadelphia, 34th St and Civic Center Blvd, Philadelphia, PA 19104; and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa (N.A.C., D.J., R.D., B.D.H., V.H.F.).
authors.forename: Maria A
authors.initials: MA
authors.lastname: Bedoya
authors.affiliation: From the Departments of Radiology (M.A.B., N.A.C., D.J., V.H.F.) and Orthopaedic Surgery (R.D., B.D.H.), The Children's Hospital of Philadelphia, 34th St and Civic Center Blvd, Philadelphia, PA 19104; and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa (N.A.C., D.J., R.D., B.D.H., V.H.F.).
authors.forename: Nancy A
authors.initials: NA
authors.lastname: Chauvin
authors.affiliation: From the Departments of Radiology (M.A.B., N.A.C., D.J., V.H.F.) and Orthopaedic Surgery (R.D., B.D.H.), The Children's Hospital of Philadelphia, 34th St and Civic Center Blvd, Philadelphia, PA 19104; and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa (N.A.C., D.J., R.D., B.D.H., V.H.F.).
authors.forename: Diego
authors.initials: D
authors.lastname: Jaramillo
authors.affiliation: From the Departments of Radiology (M.A.B., N.A.C., D.J., V.H.F.) and Orthopaedic Surgery (R.D., B.D.H.), The Children's Hospital of Philadelphia, 34th St and Civic Center Blvd, Philadelphia, PA 19104; and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa (N.A.C., D.J., R.D., B.D.H., V.H.F.).
authors.forename: Richard
authors.initials: R
authors.lastname: Davidson
authors.affiliation: From the Departments of Radiology (M.A.B., N.A.C., D.J., V.H.F.) and Orthopaedic Surgery (R.D., B.D.H.), The Children's Hospital of Philadelphia, 34th St and Civic Center Blvd, Philadelphia, PA 19104; and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa (N.A.C., D.J., R.D., B.D.H., V.H.F.).
authors.forename: B David
authors.initials: BD
authors.lastname: Horn
authors.affiliation: From the Departments of Radiology (M.A.B., N.A.C., D.J., V.H.F.) and Orthopaedic Surgery (R.D., B.D.H.), The Children's Hospital of Philadelphia, 34th St and Civic Center Blvd, Philadelphia, PA 19104; and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa (N.A.C., D.J., R.D., B.D.H., V.H.F.).
authors.forename: Victor
authors.initials: V
authors.lastname: Ho-Fung
mesh_terms: D001852:Bone Lengthening / Q000379:methods*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007867:Leg Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging* / Q000601:surgery; D007870:Leg Length Inequality / Q000151:congenital / Q000000981:diagnostic imaging* / Q000628:therapy*; D008297:Male; D014057:Tomography, X-Ray Computed / Q000379:methods*