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



Pregnancy guide if you are going to become a Mom

18 May

Body: In a woman’s life, pregnancy is one of the most exciting times and thus during this period the mothers need to very careful and conscious for the growth of their growing child. This time period starts being a great mother when these mothers come to know about their pregnancy. Once they conceive, along with that the growth of their unborn child tends to grow and below is some guidelines to keep themselves and their baby healthy during the time period of pregnancy.

First of all go to doctor for regular checkups and treatments

In India, the prenatal care at the regular intervals of time is very much important and thus it is quite helpful for a woman to keep her baby fit and fine in her womb. Most of the women have normal pregnancies and it is only due to the proper care and thus prevents pregnancy related complications. These complications could be life threatening and thus a mother needs opt be very careful during this time period. A physician specializing in obstetrics and midwives are healthcare professionals that particularize in caring for expecting mothers.

Go for healthy diet

A well balanced and healthy diet can help the mother as well as the baby to get the right nutrients.  The pregnancy always keeps in mind that the diet they take helps in the growth of their baby. The baby food intake all depends upon the diet of the mother. If the mother takes the wrong diet and goes for hard drinks then it could adversely affect the baby’s growth. Ladies are supposed to make sure that they eat good deal of whole grains, lean protein, veggies and fruits. Swordfish, canned tuna, undercooked meat, hot dogs and delicatessen meats should be fended off.

In addition, ladies may ask their doctor or midwife about considering a fish oil supplement. Fish oil contains omega 3 carboxylic acid, which are necessity for the baby’s mental capacity growth. Omega 3 fatty acids can also help out in reducing the risk of preeclampsia, which is the chosen cause of parental and fetal death.

Stay away from smoking and hard drinks

This may seem like a contributed, but both hard drinks and smoke can harm the growing baby. Smoking enhances the danger of bearing to a low-birth weight baby. Hard drinks increase the danger of a circumstance called FAS (fetal alcohol syndrome). It has been connected to heart defects, retarded growth and facial disfigurations.

Pregnancy specialist exercises

Many doctors and experts suggest that women gain amongst 25-30 pounds throughout pregnancy. Women who acquire more than the suggested amount of weight gain their risk of formulating preeclampsia and gestational diabetes. Proper exercise helps pregnant ladies to maintain standard weight. It also put in order the body for labor and finally the delivery. It not only does well for the mother, but it also does well for the baby. Researchers have shown that light exercise during this time period helps in strengthening the baby’s heart. Yoga or the great Indian meditation techniques have been practiced since centuries to cure many diseases and disorders. It helps the pregnant women to relieve stress and increase fertility who face problem in conceiving. Perform these techniques either at home or join some center to take better care of your unborn child.

About the Author:

Anna Cleanthous is a enthusiastic author who writes about various topics such as health, travel and tourism. She enjoys traveling and teaching.
My mail id:

Understanding Female Sexual Response: An overview

10 May

About the Author:
Dr. Anand Shinde, M.D., Gyn

IVF Consultant & Director of Andrology At“IVF Pune”, 7th floor Deenanath Mangeshkar Hospital Pune-4
Phone : +91 20 26876396 / 40151777
Mobile : +91 9822012166
Email :

Dr Anand Shinde is Trained in High Risk Pregnancy Management & also in A. R. T. at Birmingham. He currently practices with Nirmiti Clinic and IVF Pune.

Website: (Powered by Websites For Doctors)


2 May

There is a growing distance among the different sections of society, more so between the society at large and the inhabitants of the medical profession. This population is not only minuscule but is under- represented and inarticulate regarding its concerns, anxieties and problems. The spokesmen for the society are numerous and powerful with a ready audience. In this article I will try to be a spokesman for the other side.

The dilemma of choosing a branch of study is faced by all. Only a few choose the medical science as a profession, some out of choice, and many due to coercion by parents or by virtue of having to manage a nursing home to be inherited. Some few wanting to come onto the profession, but not succeeding opt for studies in foreign lands, mostly CIS countries likeRussia, Ukraine etc. Those coming out of choice do come in with a sense of dedication and willingness to serve, but the lengthy course and associated stress soon take their toll on their values. This is compounded when they find their friends and batch mates already into jobs, earning six-figure salaries, while they have to be satisfied with a measly stipend after a longer period of study. Add to that the fact that failure rates being so high, less than half complete their study in the stipulated 5 ½ years.

The next dilemma comes during internship; whether to work and learn during this period of a year (for whish it is intended) or to prepare for the post graduate entrance looming ahead. For in this branch only a student has to continue giving entrances for everything. Not doing a post graduation would leave him without a specialist degree and close further options, leaving him one of the nameless doctors wasting away in the hinterlands of the country for their sustenance. Yet preparing for the same has no guarantee of success, but one may have to spend some years to get through. And during that period, to be dependent on your parents, especially after being a doctor, is a mighty unpleasant experience.

The next dilemma facing the doctor choosing to do the PG is the choice of subject. Actually choice is only for the lucky few at the top of the rankings. For the rest it is only-take it or come back next year.

After completing the PG, the doctor is faced with choices of joining govt service, higher studies, joining pvt sector, or starting own practice. Each has good and bad points in its favour. A govt job gives security but with measly salaries. Of course, don’t count job satisfaction among the attributes, unless you are blessed. Keeping the govt tradition of putting round pegs in square holes, or vice versa, one may have to do works not even remotely connected to medicine. Yours truly had scrutinized scholarship forms and land records and measured areas of houses. Add to that posting in a god forsaken place, where you have to keep everyone happy starting from the local dada to the local leader so that you may survive to ply your trade. Or be prepared to get roughed up for some imaginary mistake you supposedly committed, starting from not attending to a patient to rape/molestation(so newsworthy events).Or better still, grease some palms to get a better posting. Now, this was not in the curriculum, was it? A pvt sector job gives you good salaries, but with no regards to anything else apart from profits. Please let go of your ethics, if you have any left by now. Higher studies entail the same problems described above, during post graduation. Starting your own practice involves a good investment and savings for the time till your practice starts looking up, which may be some years. You have to have an understanding father with deep pockets, so that he may support you, and by that time your wife (and may be kid) for some months(if you are lucky) or years(if not so).

Now assuming that our doctor has solved all this dilemmas, with his values wounded, but alive, he is faced with even more dilemmas. News like “doctor gives injection and patient dies” makes him feel like a cat caught in a car’s headlights. As if all the training he received in a decade and a half was for killing a patient .Also he comes under consumer protection act. Nothing wrong there except for some small points, like if patient is a consumer, why does he grudge you your fees? Oh! The doctor took Rs X for only writing three medicines. He cannot make them understand that the fees are for the expertise gained over years and not for writing only. The patient is always free to go to a ‘shop’ charging less. The other point is that why should other professions not be under copra? After all one can get killed when a bridge or building collapses, or by mosquito bites (dengue, malaria) and so many other causes. He is not sure whether he should attend to a patient brought to him when he is just about to die and try to revive him (which may not be possible medically)and risk being a breaking news for some TV channel, or first make an MLC ,so that his skin is saved, thereby losing a few vital minutes. Whether he should advise an investigation to rule out some problem. If he does, he risks being accused of taking commissions, and if not, then negligence, if the problem is discovered later.

Dilemmas galore, yet these are not the only ones. So many more are experienced, yet untold. Due to the circumstances, under which a doctor has to work, and the negativity which has come to be associated to this profession, the number of students opting for the course has dropped appreciably. After all, why should a student spend the best decade and a half of his best years, toiling away only to do a thankless job. The money and time invested in this course, if invested differently will fetch much higher returns. And the days when a doctor wanted his children to be doctors are long gone. Now he wants them to be anything but a doctor, unless he has an established institution to give in inheritance.

This article is not to discourage anyone from entering this hallowed profession, but to make him aware of the pros and cons of the same. After all being a doctor has its advantages as well, least of them being a no retirement. The joy felt on seeing the thankful smile of a patient expressing his gratitude for his relief, compensates for many of the negatives. This branch of study requires utmost dedication, and concentration over a long period, probably throughout life. If you have it in you, then!

About the Author:

Dr B.K.Kundu,
Rheumatology Clinic,
Department of Medicine,
PGIMER, Dr RML Hospital
New Delhi-110001.

Micro Health Centre (µHC) Cloud enabled Healthcare Infrastructure

28 Apr

In India the healthcare delivery at the village level is constrained by lack of healthcare infrastructure, lack of doctors, lack of supply-chain and lack of appropriate monitoring of the existing healthcare infrastructure.

Most of the poor people living in remote areas are not able to access formal health care and many of them consult untrained local ‘private practitioners’ incase of any illness. Nearly one million Indians die every year due to inadequate healthcare facilities and 700 million people have no access to specialist care. About 75% of health care infrastructure, medical manpower and other health resources are concentrated in the cities or towns where only 27% of the population resides. There is a dual burden of disease with the rise in communicable and non-communicable diseases. There is shortage of human resources, poorly trained providers, poor quality of care, lack of drugs, equipment and ineffective referral systems. These are responsible for the lack of progress in reducing maternal mortality and in providing basic reproductive and maternal health services and act as a barrier for achieving millennium development goals. Recognizing this need to strengthen the Indian healthcare delivery system led to the conceptualization of the cloud enabled healthcare infrastructure – The Micro Health Centre.

This innovative and visionary affordable health care infrastructure can be rapidly rolled out to provide basic healthcare along with Tele-video medical consultation technology. It consists of a standard shipping container converted to a Micro Health Centre, that is connected to specialized medical personnel through Internet, to bring much needed preliminary healthcare to those in need. The first deployment will be in rural Haryana.

The objective is to equip the Micro Health Centre with basic diagnostic equipments that can be operated by paramedics or interns, along with specialist medical personnel providing expert interventions through remote medical consultation. It has a network connectivity varying from 256 KBPA (via satellite) to 2 MBPS (via leased line). Furthermore it can be easily transported to remote rural areas as all supply-chains such as trucks, trains, roadways etc are aligned to handling shipping containers. The Micro Health Centre has been designed to provide healthcare, health education as well as medicines, thereby providing the basic health facilities to inaccessible areas.


Micro Health Centre structure

 The solution helps in mitigating the following issues:


Identified Healthcare Issue Conceptualized solution
Lack of Doctors and specialists • Remote tele-health consultation
Absenteeism of assigned doctors • Cloud enabled biometric monitoring
Lack of Healthcare Infrastructure, no electricity • Rapidly deployable health infrastructure
Non Functioning medical equipment • Equipments integrated with Health Cloud
Inability to rapidly deploy and then maintain the

healthcare infrastructure

• Self sustainable infrastructure
Trained manpower to run the medical equipment • Interns/ para medical personnel can operate with

training in Tele-health services

No proper medical records • Centralized medical records

Easily deployable in remote areas


Key features:

  • Self contained medical solution that can be rapidly deployed and is usable from day one. Requires minimum skilled resources at site and only requires diesel to make it functional.
  • Satellite connectivity and built in electricity
  • Tele health services to provide basic healthcare and specialist medical care
  • Innovative and affordable health care infrastructure
  • Rapid roll out
  • Easy transportation to remote rural areas as all supply-chains such as trucks, trains, roadways etc are aligned to handling shipping containers.



Micro Health centre Functionalities



•   Increasing the reach of healthcare

•   Affordable healthcare solution

•   Providing high quality care.

•   Provides primary healthcare

•   Remote medical consultation services


Cloud Enabled Micro Health Centre


The Micro Health Centre is able to leverage the revolutionary effect of cloud computing for Tele-health services, addressing the shortage of healthcare personnel in remote areas. The above diagram demonstrates the cloud computing functionality at µHC. The healthcare delivery at the Micro Health Centre can be monitored through the health cloud connectivity, thereby providing highly efficient and quality healthcare

The µHC- Health cloud advantage:

1.  Cloud computing for Tele-health is advantageous for remote consultations via video-conferencing; it can save the time and money spent by the patient.

2.  Real-time devices like tele-ECG at the µHC can transmit data to remote locations for instant analysis. Data is stored and forwarded to several sites at once or accumulated for further analysis at a later time.

3.  Patient registration, appointment scheduling and monitoring can all be performed

4.  Healthcare management and patient education are effectively handled by the µHC Health cloud, giving more complete care to the patient.

5.  Medical equipment integration with the health cloud such as with stethoscope, glucometer and equipments to monitor vitals to aid in remote consultations.

Thus it dramatically increases the reach of healthcare, bridging the Indian healthcare need gap.




1. John TJ. et al, 2011. Continuing challenge of infectious diseases in India. Lancet 15;377(9761):252-69.

2. Patel V, 2011. Chronic diseases and injuries in India. Lancet. 2011 Jan 29;377(9763):413-28.

3.Haines, A. et al, 2004. Can the millennium development goals be attained? BMJ. 2004; 329(7462): 394–397.

4.Travis, P. et al, 2004. Overcoming health-systems constraints to achieve the Millennium Development Goals. Lancet 2004; 364: 900–06.

5.Bhandari L. et al, 2007. Health Infrastructure in Rural India, India infrastructure report – 2007, 3inetwork, oxford publication, India. (Available at:

6. Healthcare in India, Emerging market report 2007, Price Waterhouse Coopers. (Available at:

7. Krishnan A, 2010. Evaluation of computerized health management information system for primary health care in rural India. BMC Health Services Research 2010, 10:310

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9.Wang X. et al, 2010. Application of cloud computing in the health information system. In: Proceedings of the2010 International Conference on Computer Application and System Modeling (ICCASM). New York, NY: IEEE; 2010

  1. Technology firms and health care: heads in the cloud: digitising America’s health records could be a huge business. Will it? The Economist (US) 2011; 399(8727):63.
  2. Wootton R, 1997. The possible use of telemedicine in developing countries. J Telemed Telecare; 3(1):23-6.

About the Author:

Dr. Jaijit Bhattacharya
Adjunct Professor, Department of Management Studies
IIT – Delhi

Director, South Asia, Global Government Affairs,

HP India Sales Pvt. Ltd


Bio: Dr. Bhattacharya is Adjunct Professor at IIT Delhi, and Vice President of Institute of Open Technology and Applications (IOTA), Government of West Bengal. Dr. Bhattacharya advises governments on e-governance strategies. Dr. Bhattacharya has developed business models and strategies for leading companies in the IT, media and computer hardware industries. He is the author/co-author of four books on e-Governance including the first book on e-Governance in India, ‘Government On-line – Opportunities and Challenges’.

Co- Author:

Ms. Ritu Ghosh
Research Associate

Specialist – Education Health Environment, Global Government Affairs,

HP India Sales Pvt. Ltd
Email ID: 

Bio: Ms. Ritu Ghosh is a research associate with Indian Institute of Technology, Delhi and has set up the Centre for Excellence in e-Governance at IIT Delhi campus with an objective to carry research activities and showcase the latest technology initiatives and innovation to the government. She is an ICT public policy expert with over 13 years of experience. She has been driving initiatives for the adoption of ICT as the transformation tool in emerging and developed economies.

Co- Author:

Dr. Anjali Nanda, B.D.S

Social Systems Specialist,

Hewlett Packard – India, Gurgaon


Bio: Dr. Anjali Nanda is a dental surgeon with rich clinical experience in both rural settings and urban areas in India. She has been a part of research projects involving urban poor and has a good understanding of their healthcare needs and the healthcare delivery process.

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