History and Physical Examination

The clinical appearance of proximal femoral focal deficiency (PFFD) is not subtle, and the condition therefore is easily recognized. The femur is shortened, flexed, abducted, and externally rotated.^{[7, 9, 14]}Gillespie noted that in his patients, the hips were never normal and the knees were dysfunctional.^{[3, 15]}Flexion contractures of the hip and knee are also present.

The bulbous proximal thigh quickly tapers to the knee. Because of the short femur and bulbous thigh, examination of the hip can be difficult. As a result of hip instability, pistoning may be present. The knee is uniformly unstable in an anteroposterior plane secondary to absent cruciate ligaments. Additionally, generalized knee hypoplasia has been reported.^[3]

A high incidence of fibular deficiency and valgus feet is associated with PFFD.^[9]Fibular deficiencies are found in as many as 70-80% of persons with PFFD. Approximately 50% of patients with PFFD have other limb anomalies.^[16]However, Aitken reported almost a 70% incidence of other anomalies.^[17] Cleft palate, clubfoot, congenital heart defects, and spinal anomalies, though rare, occur as well. PFFD is bilateral in 10-15% of cases.^[10] Patients with bilateral PFFD can present with upper-extremity involvement.^[18]

Differential Diagnoses

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Zhang Z, Yi D, Xie R, Hamilton JL, Kang QL, Chen D. Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology. Ann N Y Acad Sci. 2017 Dec. 1409 (1):67-78. [QxMD MEDLINE Link]. [Full Text].
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Chomiak J, Podškubka A, Dungl P, Ošt'ádal M, Frydrychová M. Cruciate ligaments in proximal femoral focal deficiency: arthroscopic assessment. J Pediatr Orthop. 2012 Jan-Feb. 32 (1):21-8. [QxMD MEDLINE Link].
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Maldjian C, Patel TY, Klein RM, Smith RC. Efficacy of MRI in classifying proximal focal femoral deficiency. Skeletal Radiol. 2007 Mar. 36 (3):215-20. [QxMD MEDLINE Link].
Bernaerts A, Pouillon M, De Ridder K, Vanhoenacker F. Value of magnetic resonance imaging in early assessment of proximal femoral focal deficiency (PFFD). JBR-BTR. 2006 Nov-Dec. 89 (6):325-7. [QxMD MEDLINE Link].
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D'Ambrosio V, Pasquali G, Squarcella A, Marcoccia E, De Filippis A, Gatto S, et al. Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings. J Clin Ultrasound. 2016 May. 44 (4):252-9. [QxMD MEDLINE Link].
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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 Clinical Presentation

History and Physical Examination

References

Tables

Contributor Information and Disclosures

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