Diagnostic Considerations

Congenital short femur (CSF) is one of the differentials of proximal femoral focal deficiency (PFFD). CSF is characterized by generalized hypoplasia of the femur. Clinical presentation resembles that of PFFD in the early stages. One way of clinically distinguishing CSF from PFFD is to extend the foot as far as possible as compared with the normal side. If it is beyond the knee, then the patient has a decent amount of femoral length. Flexion of the hip and knee, if present, is reversible, in contrast to PFFD. If the hip joint is also stable, the chances of CSF are high.^[3]

Differential diagnosis of PFFD includes the following:

Femur-fibula-ulna complex – Confirmation of shortening of the femur, fibula, and tibia
Femoral dysplasia–unusual facies syndrome, also known as femoral facial syndrome – Confirmation of bilateral femoral dysplasia, micrognathia, palatoschisis, shortened nose, lengthened medial cleft, thin upper lip, upper-limb movement restriction, and (rarely) genitourinary congenital disorders
Al-Awadi–Raas-Rothschild syndrome, also known as limb/pelvis–hypoplasia/aplasia syndrome – Confirmation of complex upper- and lower- limb malformations

Workup

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Author

Amit Kumar Agarwal, MBBS, MS(Orth), DNB(Orth), MNAMS, MCh(Orth), MIMSA, Dip SICOT(Belg) Consultant Orthopaedic Surgeon, Indraprastha Apollo Hospital, India

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

B Sonny Bal, MD, JD, PhD, MBA CEO and President, SINTX Technologies, Salt Lake City, UT

B Sonny Bal, MD, JD, PhD, MBA is a member of the following medical societies: American Academy of Orthopaedic Surgeons

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: SINTX Technologies.

Chief Editor

William L Jaffe, MD Clinical Professor of Orthopedic Surgery, New York University Grossman School of Medicine; Vice Chairman, Department of Orthopedic Surgery, New York University Hospital for Joint Diseases

William L Jaffe, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American College of Surgeons, American Orthopaedic Association, Eastern Orthopaedic Association, New York Academy of Medicine

Disclosure: Received consulting fee from Stryker Orthopaedics for speaking and teaching.

Additional Contributors

David Scher, MD Clinical Instructor, Department of Orthopedic Surgery, Hospital for Joint Diseases, New York University

Disclosure: Nothing to disclose.

Michael G Dennis, MD Consulting Surgeon, Orthopedic Care and Sports Medicine Center, Aventura Hospital and Medical Center

Disclosure: Nothing to disclose.

Sections Proximal Femoral Focal Deficiency
Overview
Presentation
DDx
Workup
Treatment
References

Proximal Femoral Focal Deficiency Differential Diagnoses

Diagnostic Considerations

References

Tables

Contributor Information and Disclosures

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