Tag Archives: Dr R L Shahu

Congenital deficiency of the proximal femur

7 Jun

Congenital deficiency of the proximal femur, literature review with a case report

Congenital anomalies of the femur are very uncommon, it is of extreme importance that every case of rare congenital deformity coming under the care of the surgeon should be  reported, as it may be helpful in further investigations both of an embryological and an anatomical nature.  Here by we are presenting a rarity of congenital deficiency of the proximal femur in a child of 3 months.



 Congenital anomalies of the femur and fibular aplasia/hypoplasia are considered as the main anomalies involved in congenital asymmetry of the lower limbs. Congenital anomalies of the femur is a rare anomaly, occurring with a frequency of approximately 0.2/10,000 live births. Congenital anomalies of the femur is described as an outbreak of femoral hypoplasia or aplasia, isolated or associated with fibular and/or ulnar anomalies. It is an uncommon congenital defect that involves the femur and acetabulum in varying degrees. It can either be isolated or in combination with other defects of the lower limbs including absence or hypoplasia of the patella, fibular a/hypoplasia and absence of lateral foot rays.  1-3 


Case report

The female infant of 12 weeks was brought to the hospital with complains of shortening of left lower limb and unable to move that limb, this was the first child, pregnancy and labor being without difficulty. Both parents were 30 years old. Family history and pregnancy were unremarkable. There was no history of maternal diabetes or exposure to any teratogenic agent during the pregnancy. The baby was delivered spontaneously at 39 weeks of gestation. Birth weight was 3500 g (50th centile), length was 50 cm (50th-75th centile), and occipitofrontal head circumference was 34 cm (25th-50th centile). Baby was well nourished for her age, the left lower extremity which is much shorter than the right, In the supine position the child held the left lower extremity in the frog position. Upon standing on the right leg, the left was held in ninety degrees’ external rotation. The child could stand on the left leg by flexing the right knee. Strength of the muscles was good. There is a congenital abnormality of the left femur with a complete absence of the upper half of the femur. The lower portion of the shaft gradually tapers to a point, and ends five centimeters above the epiphyseal line. The upper extremity of this rudimentary bone found in external and superior to the site of the acetabulum, which was undeveloped. The knee joint was clear and normal. The right femur was normal in development and measures sixteen centimeters from the upper to the lower epiphyseal line. The right hip and knee joints were normal. There was no pathology on chest roentgenograms and abdominal ultrasonography. Routine laboratory tests and ophthalmological examination were also normal. Peripheral blood chromosomal analysis showed normal male karyotype (46, XY). The physical examination of the parents including their limbs was normal.



Proximal femoral focal deficiency is a rare malformation of the lower limbs that involves the femur and acetabulum in varying degrees. It may occur with or without fibular hemimelia and can be unilateral or bilateral in presentation. 4 Fibular a/hypoplasia covers a spectrum of malformations including variable degrees of fibular a/hypoplasia ,shortening of the tibia and femur, genu valgum and lateral femoral condyle hypoplasia, knee ligament laxity, tibial bowing, ball and socket ankle joint, tarsal coalitions and missing lateral rays of the foot . 5 It has long been suggested that the basis of such anomalies may involve an alteration of limb “developmental fields”, i.e., tibial and fibular fields 6. However, a specific genetic cause, such as mutations involving a specific gene family, etc., has not been elaborated yet. One such affected putative gene family may be the Hox gene family involved in skeletogenesis both axial and appendicular, as well as in other systems such as the urogenital system 7. The etiology of proximal femoral focal deficiency is unknown. It is known that the development of the limb buds takes place early in fetal life, beginning at about four weeks’ gestation. Various factors act upon the developing limb, resulting in rotation, segmentation, longitudinal growth, and differentiation of elements. The most proximal elements of the limb develop first 8, 9   and the hand and foot follow, being fully formed by the seventh week. Chemical toxicity,radiation,enzyme alterations, viral infections,   and mechanical trauma 10 have produced limb anomalies in humans and experimental animals. Ring has stated that the primary problem is in the enchondral ossification of defective cartilage. Gardner 9 pointed out that failure of skeletal elements to form may be due to factors operating during the period of differentiation. This critical period-at four to eight weeks of fetal life-was defined by studies of thalidomide babies. It is apparent from these and other studies that as the severity of the defect increases, so does the incidence of associated anomalies. The theory advanced by Morgan and Somerville 10. that mechanical trauma to the advancing growth plate interferes with the development of normal infantile valgus, may be appropriate for simple coxa vara, but it does not explain the wide dissociation of fragments seen in the typical case of Proximal femoral focal deficiency.

Congenital deficiency of the proximal femur

Fig 1: Radiographic images of the lower extremities and pelvis showing Normal right lower extremity and   Affected left extremity



1. Hamanishi C. Congenital short femur. Clinical, genetic, and epidemiological comparison of the naturally occurring condition with that caused by thalidomide. J Bone Joint Surg Br 1980; 62: 307-320.

2. Sorge G, Ardito S, Genuardi M, et al. Proximal femoral focal deficiency (PFFD) and fibular a/hypoplasia (FA/H): a model of a developmental field defect. Am J Med Genet 1995; 55: 427-432.

3. Ashkenazy M, Lurie S, Ben-Itzhak I, Appelman Z, Casbi B. Unilateral congenital short femur: a case report. Prenatal Diagn 1990; 10: 67-70.

4. Stormer SV. Proximal femoral focal deficiency. Orthop Nurs 1997; 16(5): 25-31.
5. Caskey PM, Lester EL. Association of fibular hemimelia and clubfoot. J Pediatr Orthop 2002; 22: 522-525.

6. Lewin SO, Opitz JM. Fibular a/hypoplasia: review and documentation of the fibular developmental field. Am J Med Genet 1986; 91: 347-356.

7. Goodman FR. Limb malformation and the human Hox genes. Am J Med Genet 2002; 112: 256-265.s been suggested that   1938 and 1948).

8. Borggreve, J., Kniegelenksersatz dutch das in der Beinlangsachse um 180′ gedrehte Fussgelenk. Arch. Orthopad. Chir. 28:175-178. 1930.

9. Gardner, E. D. The development and growth of bones and joints. A.A.O.S. Instructional Course Lecture. J. Bone Joint Sure. 45A(4):856-862, 1963.

10. Morgan, J. D., and E. W. Somerville. Normal and abnormal growth at the upper end of the femur. J. Bone Joint Surg. 42B:264-272, 1960.


About the Author:
Dr Ramji lal Sahu

Associate professor, Department Of Orthopaedics, SMS and RI, Sharda University.

Greater Noida, U. P., India

Contact: Mobile no. 09871120703, Email drrlsahu@gmail.com




Primary Tuberculosis of Bone Mimicking a Lytic Bone Tumor

28 May


Tuberculous lesions in bone are lytic with poorly defined margins that often cross the physes. However, symmetrical lytic lesions in bones due to tuberculosis are rare and only very few cases have been reported. The indolent course and progressive symptoms are the most consistent features of musculoskeletal tuberculosis and misdiagnosis is common. Osteopenia and joint effusion are common with articular involvement. As these lesions radiologically mimic bone cyst, osteoblastoma, osteosarcoma and metastatic bone disease1, biopsy is mandatory to confirm the diagnosis Cystic type of tuberculosis is rare and presents a difficult to diagnose problem. The purpose of this case report is to highlight the features for the diagnosis of cystic lesion of bone and to emphasize the importance of carrying out biopsy in such cases for the confirmation of diagnosis2. A 19-year-old male presented with pain and swelling of one month duration over the outer aspect of the right ankle. There was no history of constitutional symptoms, trauma or any recent strenuous activity.


The patient did not suffer from any significant medical illness. On examination there was some swelling and deep tenderness over the lateral malleolus. The ankle had a full range of pain free movements. On Plain radiographs Lytic, expansive focus was seen lying eccentrically in tibial metaphysic with disruption of cortex laterally. Extension to articular surface was noted. Margin showed thin zone of sclerosis. Overlying soft tissue swelling was noted. Ankle joint space appears maintained. Tarsal bones and their joints were grossly maintained. (Figure 1) All routine blood investigations including ESR and CRP were also normal. The patient failed to respond to conservative treatment. Further investigation with a bone scan revealed an increased uptake in the lower end of the tibia. Bone scan reported chondroblastoma right tibia as provisional diagnosis and advised biopsy for final diagnosis. (Figure 2) The patient underwent open biopsy for histological examination,  culture and polymerase chain reaction (PCR) analysis.


Histology showed a few Langhans giant cells, but no bacilli were seen. PCR analysis showed Mycobacterium tuberculosis, but cultures failed to grow any organism. The diagnosis was confirmed by biopsy specimens. There was no evidence of pulmonary tuberculosis on chest radiograph. On the basis of clinical features, histology and PCR results, ant tubercular treatment were started. The cystic cavity was curetted to remove granulation tissue and pus. Bone graft was used to fill the bony defect. The patient responded to the treatment with complete resolution of symptoms. The patient recovered well without any deformity or restriction of movement, and was under regular follow-up for one year post operation. (Figure 2)


Tuberculosis is rampant and endemic in developing countries. The incidence of skeletal manifestation in tuberculosis is only 1-2%. Bones generally involved are the spine (dorso-lumbar), skull, shoulder girdle and hip bones. Tuberculosis of the bone, in general usually begins in the cancellous portion of the bones involvedMultiple sites may be involved. However, symmetrical lytic lesions in bones due to tuberculosis are rare and only very few cases have been reported. As these lesions radiologically mimic bone cyst, osteoblastoma, osteosarcoma and metastatic bone disease, biopsy is mandatory to confirm the diagnosis. The advent of DNA amplification techniques such as the polymerase chain reaction may herald a promising new era in the prompt and accurate management of extrapulmonary tuberculosis 4. If osteoarticular tuberculosis is diagnosed and treated at an early stage, approximately 90-95% of patients achieve healing with near normal function. The mainstay of treatment is anti-tuberculous therapy and active assisted exercise of the involved joint throughout the period of healing 5.  Cystic type of tuberculosis is rare and presents a difficult to diagnose problem. The purpose of this case report is to highlight the features for the diagnosis of bilateral symmetrical cystic lesions of bone and to emphasize the importance of carrying out biopsy in such cases for the confirmation of diagnosis.


 “Conflict of interest: None.”




1.     Yip KM, Lin J, Leung PC. Cystic tuberculosis of bone mimicking osteogenic sarcoma. Tuber Lung Dis 1996;77:566-8.


2.     Levine SM, Marianacci EB, Kuttapuram SV. Tuberculosis of contralateral costotransverse joints. Skeletal Radiol 1997;26:741-3.


3       Straus CD. Tuberculosis of the flat bones of the vault of the skull. Surg Gynec Obstet 1933; 57:384-398.


4     Carrot ED, Clark JE, Cant AJ. Non-pulmonary tuberculosis Pediatr Respir   2001; 2:113-9.


5        Tuli SM. General principles of osteoarticular tuberculosis. Clin Orthopedic  2002; 398:11-19.


About the Author:

Dr Ramji lal Sahu

Associate professor, Department Of Orthopaedics, SMS and RI, Sharda University.

Greater Noida, U. P., India

Contact:  Mobile no. 09871120703, Email drrlsahu@gmail.com

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