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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




8 Apr

Joint problems are on the rise due to large number of people who exercise/participate in competitive sports and are thus prone to injury.

Arthoscopy is a procedure used to diagnose and treat problems in a joint .These may be detected by clinical examination and on X-Ray/MRI but the actual extent is verified only by direct visualization.


To patients it offers the advantage of smaller incisions,reduced pain and faster recovery thus disturbing their routine very little.For doctors it allows excellent views of the joint thus allowing more precise more precise surgery.
It is commonly done for the knee and shoulder joints as these joints can be well accessed and are large enough for instruments to be inserted and manipulated during ARTHROSCOPIC surgery.However ARTHROSCOPY of hip,elbow,ankle etc is also done.


Through a small (about 5 mm)incision,a camera attached to a fiber optic light source is inserted into the the images of the inside of joint are viewed on a TV monitor.
The joint may be inflated with saline to flush out any debris and create space for operating.Other small incisions are made to allow insertion of instruments during surgery.



To diagnose torn Cartilage,Ligament injury ,knee Cap problems etc.
Meniscus tear repair/excision ,loose body removal liagament reconstruction ,shaving of degenerative cartilage can all be done arthroscopically.


For diagnosis and treatment of shoulder instability,rotator cuff tears,should bursits and frozen shoulder.


After ARTHROSCOPY the joint will be bandaged and painkillers prescribed.
There will be some swelling and discomfort.
The small incisions heal within 2-3 weeks.
Physiotherapy and exercises may be advised may be advised to speed recovery.

About the Author:

Dr. Rahul Nerlikar

Qualifications: MS(Orth), DNB(Orth), FRCS(Glasgow), MCh (Orth)(UK)

Currently doing private practice as an Orthopaedic Surgeon specializing in Joint Replacement and Arthroscopic Surgery at Kelkar Nursing Home. He is also Honorary Associate Consultant Orthopaedic Surgeon, K.E.M Hospital, Pune

Contact Information:

Website: (Powered by Websites For Doctors)

Arthritis – Knee Pain – A suitable solution

22 Mar

We have recently celebrated “world Arthritis Day” in big way.

The fact that 15 percent of the Indian population suffers from this crippling disease is alarming and arthritis deserves immediate attention.

“Arthritis” means inflammation of joint, that means there is pain , swelling, tenderness around joint. This simple looking word arthritis is of many types. This is important to know which kind of “Arthritis” I am suffering from. This will make you able to nip in the bud and control deadly disease of “Arthritis” easily.

In India  osteoarthritis ie degenerative arthritis which affects the knee is more prevalent in the country with every third person above the age of 70 years affected, , the incidence of rheumatoid arthritis is little less than in the West.

More then 20 crore Indians are suffering from Arthritis. Let us talk how to manage  osteoarthritis. Since this is a degenerative in nature so we should all understand how to prevent it. We can prevent by followings

  1. Reducing weight – keeping weight in normal limit according to age, height , sex and frame of body ( small, medium, large).
  2. Regular physiotherapy – strengthening muscles around knee like quadriceps and hamstrings
  3. Maintaining strong bones by keeping normal Bone Mineral Density  ( Normal value is T score  – 1 and above). Regular walking.
  4. Maintaining normal vitamin D 3 levels. Recent survey showed that health personnels are vitamin D 3 deficient to the tune of 65%. This is an eye opener report as we think that medical illness are not meant for us.

In spite of all preventive measures osteoarthritis affect people and person feels following features.

  1. Pain while climbing stairs more on coming down.  Person look for railing to catch hold.
  2. Seeking for some support to get up from sitting on ground.
  3. Experiences some cracking sound while bending knees.
  4. Avoid going to Indian toilet and prefers western commode.
  5. Usually feels pain on inner side of knee joints.
  6. Stiffness around knee joint.

And when you see there knees you find there is disturbed knee alignment.

Normal knee                                                                     Osteo-artheritic knee

Normal Knee, Dr Agrawal

You might have observed that if knee is aligned normally then there is about 7  degrees of valgus  between   femur and tibia that is leg goes outward from thigh by 7 degrees. In osteoarthritis this valgus alignment is reversed to Knee varus ie leg comes inside from thigh. Look following pictures which are self explanatory.

Cartilage is circular covering whole knee joint area and taking part in weight bearing

you can observe that weight bearing line is passing from centre and whole knee joint cartilage (circular surface ) is taking part in weight bearing.

Cartilage left is not taking part in weight bearing as the weight bearing axis is shifted to area where there is no cartilage.

Observe that in osteoarthritis inner joint space is reduced. There is extra pressure on medial side of joint. Cartilage is denuded underlying pain nerve endings are exposed and gives pain. Weight bearing line is shifted to medial or inner side of knee . therefore whatever cartilage is left is not taking part in weight bearing. Weight is borne by the inner small point focused area where there is cartilage is denuded so nerve endings are exposed to give you pain, the moment person puts weight on it.

To bring

  1. Healthy remaining cartilage to take part in weight bearing .
  2. So that weight is borne by the healthy cartilage and pain is avoided .
  3. And to off load medial or inner angle of knee joint from excess pressure.

We need to change present alignment of knee and bring back to normal one which is 7 degrees of valgus . High Tibial Osteotomy does this safely and simply. One of the ways to do HTO is shown here. A triangular piece of bone has been removed to realign the knee joint.

Inner angle is off loaded, excess pressure is removed

when you close the wedge normal alignment is achieved . By its virtue following things happen.

  1. Normal healthy cartilage start taking part in weight bearing so pain of the person goes away.
  2. Excess pressure from medial (Inner) cartilage goes away.
  3. Since inner angle is off loaded therefore cartilage  get pressure free environment to grow freely.

see the real x-ray pictures showing how they look in affected knee and what happens when HTO is performed.


x-ray of osteo arthritic deformed                                                          After HTO- knee is aligned

knee with excess pressure at inner                                                        weight bearing is redistributed

angle                                                                                                                   to whole knee surface, so pain goes away









Similar problem can be tackled by Total Knee replacement surgery also especially when all three compartment of knee cartilage are damaged. In this we shave of ends of femur and tibia and replace by an artificial metal joint, which has certain life.


Advantages of HTO surgery.

  1. Since it is not performed at joint level so the knee joint movements are not restricted.
  2. Your god given natural cartilage is not excised.
  3. Cartilage is provided suitable pressure free atmosphere to grow.
  4. Cheaper.
  5. Can be performed in all operation theatres.
  6. Complications are negligible and are never dreadful.
Quality of Life after Knee Surgery

                        let us see how we Indians are different from west.

   How we       Indians                                    are different                                  from west  ?


  • Don’t keep health budget.                                     Health insured
  • Go very late to doctors.                                         Approach doctor early
  • Good tolerance.                                                         Low tolerence
  • Very conservative                                                   Not conservative.
  • Afraid of big surgery.                                              Fear less
  • Miserly spend on health.                                        Don’t bother as are insured
  • Don’t’want to leave sitting habits and               Social custom are different

other social customs

What is the need in todays senerio is to provide best and customized treatment which is most suited to that particular person. Still there is  huge common cohort of osteoarthritic  people who can be offered either TKR or HTO. Responsibilities lie upon we doctors to see what procedure suits most to that particular person, rather then driven by many other things.

 HKO-TKR Overlap

Now world is changing , more and more importance is being given to the conservation of natural , god given things. HTO is one of these natural cartilage preserving technique . This should be used in abundance in suitable persons to provide relief to arthritic population our country ( rather whole Indian subcontinent )  who has different social customs then west.

About the Author:





Orthopedic and Joint replacement Surgeon

MBBS (Gold Medalist), M.S. (Orth.), MCh.(Orth.)


AO International Fellow (Switzerland)

Fellow N.U.H. (Singapore)

Fellow Stanford Hospital ( USA )


Satya Trauma & Maternity Centre,Barra, Kanpur  &

Dr A K Agrawal is a renowned Orthopedic  and Joint replacement surgeon in Kanpur, North India. After doing his medical graduation and post graduation with gold medal from GSVM Medical College Kanpur he joined prestigious Jaslok Hospital & Research Centre, Mumbai. Later he joined Bombay Hospital, Mumbai where he worked with Dr K T Dholakia. He also worked in Central Institute of Orthopedics ,safdarjang Hospital,  and Dr R.M.L.Hospital, New Delhi.

Dr Agrawal did his fellowship from prestigious B G Unfall Klinik, Tubingen , Germany.

Dr Agrawal was awarded fellowship by National University Hospital , Singapore. Dr Agrawal has papers published in reputed journals . He has delivered many talks. He has travelled widely in India and abroad.

At present Dr Agrawal is consultant Ortho and joint replacement surgeon and director of Satya Trauma Centre,  Kanpur.

Isolated Caries Spine in Children in India

19 Jun

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

Turner syndrome with Tubercular Osteomyelitis of iliac bone – An Unusual Presentation

16 May

We read the article by Arvind Mogha et al. in march 2009 Isolated Left Ileum Bone Tuberculosis: A Case Report and Vivek TRIKHA et al Tuberculosis of the ilium: is it really so rare? With great interest .We recently encountered a similar complication in A 20 years old female having features of turner syndrome was admitted in Orthopedic ward with history of low grade fever off and on, severe pain in left iliac fossa and gradually increasing mass in left iliac fossa, and a discharging sinus over left groin for last 5 months. Discharge was thin purulent greenish in color.

Pain was so intense that she could neither sleep properly in spite of analgesics. There was no history of trauma. There was no history of anorexia, weight loss, backache, urinary or bowel complaints. On examination she was a febrile without any pallor. There was immobile, nontender, and soft to firm mass, about 5 x 5 cm size in left iliac fossa. On investigations her Hemoglobin was 10.2 gm%, ESR 62 mm fall at the end of first hour, X-rays chest was normal. X-ray lumbosacral spine revealed no abnormality. X-ray pelvis showed a well-defined, radiolucent defect in the left iliac crest about 1×1 cm in size (Fig- 1). Ultrasound abdomen and CT scan shows cystic mass about 5 x 5 cm in left iliac fossa. Incision and drainage of abscess was done in general anesthesia. It was found that abscess in the left iliac fossa abscess has got communication with the left gluteal region through defect in ala of left ilium. Histopathology of curetted piece of bone showed tuberculous osteomyelitis. With repeated dressings and antituberculous chemotherapy patient recovered within two months. On follow up the patient is doing well.

Tuberculosis remains the major source of morbidity and mortality worldwide, affecting approximately one-third of the world’s population. Osteoarticular involvement occurs in less than 3% of patients with extra pulmonary tuberculosis and of which spine represents half of this lesions1-2. Tuberculous osteomyelitis of the ilium is seen very rarely. Here we report a case of tubercular osteomyelitis of the isolated left ilium bone, proved on the basis of microbiological and histopathological examination of excisional biopsy specimen.
Tuberculosis of the ilium is a rare identity, and till now fewer cases are reported in literature.3 In a review of the literature we have been able to find reference to first case, that reported by Nelaton’ in 1892.4 The exact incidence of ilium bone tuberculosis is not known but it accounts for less than 1% of all skeletal tuberculosis 5.

Turners Syndrome is itself a rarity and combination of isolated iliac bone tuberculosis having discharging sinus with turners has never been reported.

Hip Bone, Indian Health journal, Iliac Bone

Fig 1: X-rays left hip bone showing a well defined radiolucent defect in iliac bone

“Conflict of interest: None.”


1. Bateman J. The Shoulder and Neck. WB Saunders Co. Philadelphia, 1975 (s)

2. Evan chick CC, Davis DE, Harrington TM: Tuberculosis of peripheral joints: an often missed diagnosis. Rheumatol 1986, 13:187-191

3 Ryan CA, Funston RV. Osteomyelitis of ilium (probably tuberculous): case report. J Bone Joint Surg Am. 1930; 12:165-167.

4 Babhulkar SS,Pande SK .Clinical orthopedics 2002 ;398:114-20 Unusual manifestation of osteoarticular tuberculosis. .

5 Trikha V, Varshney MK, Rastogi S. Tuberculosis of the ilium: is it really so rare. Acta Orthop Belg, 2005 ;71(3):366-8.

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

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