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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.

 

Introduction

 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.

 

 Discussion

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

 

References

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

 

 

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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: anna.cleanthous@gmail.com

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 : shinde.ivfpune@gmail.com

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: http://www.dranandshinde.com/ (Powered by Websites For Doctors)

Arthoscopy

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.

WHY ARTHROSCOPY!

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.

TECHNIQUE:

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.

COMMON ARTHROSCOPIC PROCEDURES

KNEE JOINT:

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.

SHOULDER JOINT:

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

AFTER CARE

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: rahulnerlikar@gmail.com

Website: http://care-for-joints.com (Powered by Websites For Doctors)

Do We Treat Male Infertility in the Era of ICSI ? – Dr. Anand K. Shinde

31 Mar

 

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 : shinde.ivfpune@gmail.com

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: http://www.dranandshinde.com/ (Powered by Websites For Doctors)

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