Proximal femoral defect

Classification according to ICD-10
Q72.4	Proximal femoral defect
ICD-10 online (WHO version 2019)

The proximal femoral defect ( English Proximal femoral focal deficiency , PFFD) is a rare congenital malformation of the upper end of the thigh bone (femur). It usually occurs on one side. The expression ranges from a slight shortening to the complete absence of the femur.

Epidemiology

The frequency is given as 2: 100,000. The disease is frequently associated with other abnormalities, particularly with fibular hemimelia or a aplasia of the kneecap (patella), but also with knee instability, a hypoplasia of shinbone (tibia) or calf bone (fibula) and Fußfehlbildungen.

The disease is congenital , but probably not hereditary . For thalidomide , exposure of the mother during the 5th or 6th week of pregnancy has been shown to result in this proximal femoral defect.

Classification

Proximal femoral defect with significant femur shortening on the left

The oldest classification according to George Aitken is based on exclusively radiological criteria and comprises four types:

• A Bony connection between the femoral head and shaft exists
• B Femoral head present but not connected to the shaft
• C No or only rudimentary femoral head present
• D Only distal portion of the femur is present

A more comprehensive classification is made according to Pappas in 9 classes:

• I Totally absent femur
• II Proximal femoral defect + pelvic lesion
• III Missing connection between femoral head and shaft
• IV poor (only connective tissue) connection between the femoral head and shaft
• V Defect in the middle of the shaft with hypoplasia proximal or distal
• VI Distal femoral defect
• VII Hypoplastic femur with coxa vara and sclerotherapy
• VIII Hypoplastic femur with coxa valga
• IX Hypoplastic femur with normal proportions

The classifications have no therapeutic relevance.

diagnosis

The main symptom is the shortening of the legs. Pronounced forms are noticeable immediately after birth; milder forms are only recognized in infancy. Since only the bony appendages can be seen in the X-ray image , sonography can be useful in the first few years of life . The muscles are properly created, but can be hypoplastic .

The femoral-facial syndrome , which also has facial dysmorphism , and other complex malformation syndromes such as Fuhrmann's syndrome must be differentiated .

treatment

Shepherd's staff deformity, endoprosthesis

The treatment is usually tedious and individually tailored to the patient and the severity of the disease. Shoe elevations, orthotics and prostheses can be sufficient for mild forms. In many cases, depending on the status of the femoral head and the degree of knee involvement, interventions to correct the hip and stabilize the knee should also be considered. Furthermore, an extension of the femur and / or the tibia can be considered, whereby the method of the ring fixator used since the 1950s and established by Gawriil Abramowitsch Ilisarow or the fully implantable intramedullary nail are available as treatment methods. The latter was developed by Rainer Baumgart and Augustin Betz in the early 1990s and has been used successfully in leg lengthening since then.

In the case of the so-called shepherd's staff deformity, an endoprosthesis can also be implanted in the adult patient . Due to the rarity of the disease and the complexity of the treatment, it should be done in a specialized center.

See also

• Femur-Fibula-Ulna Syndrome

literature

• RK Beals: Coxa vara in childhood: evaluation and management. In: Journal of the American Academy of Orthopedic Surgeons . 6, 1998, pp. 93-99.
• KL Brown: Resection, rotation plastic, and femoropelvic arthrodesis in severe congenital femoral deficiency. A report of the surgical technique and three cases. In: The Journal of Bone & Joint Surgery . [Am] 83-A, 2001, pp. 78-85.
• Fritz Hefti: Pediatric Orthopedics in Practice . Springer, 1998, ISBN 3-540-61480-X .
• SH Yang, SC Huang: Valgus osteotomy for congenital coxa vara. In: Journal of the Formosan Medical Association. 96, 1997, pp. 36-42.

Web links

• Support group
• Medscape
• Shepherd crook deformity

Individual evidence

1. ↑ EJ Rogala, R. Wynne-Davies et al. a .: Congenital limb anomalies: frequency and aetiological factors. Data from the Edinburgh Register of the Newborn (1964-68). In: Journal of medical genetics. Volume 11, Number 3, September 1974, pp. 221-233, ISSN  0022-2593 . PMID 4372353 . PMC 1013131 (free full text).
2. ↑ George T. Aitken: Proximal femoral focal deficiency. Definition, classification, and management . In: George T. Aitken (Ed.): Proximal Femoral Focal Deficiency. A Congenital Anomaly . A symposium held in Washington, DC, June 13, 1968 (  National Academy of Sciences Publications . Volume 1731 ). National Academy of Sciences, Washington (DC) 1969, ISBN 0-309-01734-3 , pp. 1–22 (English).
3. ↑ Magdy Abdel-Mota'al: Proximal femoral focal deficiency. Case report
4. ↑ AM Pappas: Congenital abnormalities of the femur and related lower extremity malformations: classification and treatment. In: Journal of pediatric orthopedics. Volume 3, Number 1, February 1983, pp. 45-60, ISSN  0271-6798 . PMID 6841603 .
5. ↑ S. Pirani, RD Beauchamp et al.: Soft tissue anatomy of proximal femoral focal deficiency. In: Journal of pediatric orthopedics. Volume 11, Number 5, Sept-Oct 1991, pp. 563-570, ISSN  0271-6798 . PMID 1918340 .
6. ↑ Proximal femoral defect. In: Orphanet (Rare Disease Database).
7. ^ Rüdiger Döhler : Lexicon of orthopedic surgery . Springer, Berlin 2003, ISBN 3-540-41317-0 , pp. 174-175.

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !