Congenital Limb Deficiency

Congenital limb deficiency– congenital limb deficiency is quite disabling to new born. As child grows, their problem increase many folds. In congenital limb deficiency, one or many part of limb is not develop completely / under develop along with problem in joint. Limb shortening, joint deformity, bony torsion, muscular imbalance are important finding in these children. Causes are most of the time is unknown but still sporadic mutation is the commonest cause. Before the invent of concept of limb reconstruction byIlizarov and Drohr Paley, most of time these children are bound to live apathetic life and to wear extension prosthesis or has to undergo amputation. Now with the latest concept, most of the limb deficiency problem can be managed successfully and child can be given nearly normal limb. Congenital femoral focal deficiency (CFFD), tibialhemimelia, fibular hemimelia, radial club hand is the common congenital limb deficiency problem. 

 Congenital femoral deficiency: it is spectrum of femoral deficiency, deformity and discrepancy. CFD can have various component like Knee and hip Joint malformation, mal function, joint instability, muscle contracture, femur bone shortening & rotational deformity, cartilaginous un-ossified bone at the femur etc. fibular hemimelia and ray deficiency in association with CFD is common

Pathology: Majority of cases will have varying degree of coxavara. This coxavara ranges from mild uniplanar deformity to sever triplaner deformity. It is complex deformity in all three plane combined with muscle contracture. Dysplasia of Acetabulum is also very common in CFD. Most of time both anterior and posterior cruciate ligament also absent in the knee joint.

Dx– diagnosis is based on clinical examination but confirmation by X-ray and ultrasound. MRI is needed to evaluate pathology of CFD. MRI is useful to evaluate integrity of proximal femur, see the presence of cartilaginous femoral neck. It help in determining the outline of proximal femur deformity and knee joint.

Paley Classification:

Treatment: treatment of CFD according to Drohr Paley protocol gave good outcome in most of the children so we follow the same principal. In first stage we correct the deformity at all level; then in subsequent stage we start lengthening and manage limb length discrepancy. Surgery in CFD need experience of treating this case as well as specialized surgical skill training. It is a long procedure so child also need blood transfusion per operatively.

Stage 1: in start we evaluate whole lower limb from hip to foot and write down about problem in hip, knee and foot. In this first stage depending upon Paley type of CFD, we plan accordingly. We focus on reconstruction of hip &acetabulum, correction of proximal femur deformity by osteotomy and fixation, treatment of muscle contracture, ossification of cartilaginous proximal femur by the use of BMP, reconstruction of knee ligament by the of use of tensor fascia Lata. After this reconstruction hip spica plaster given to every children. After 9 month to 1 year, we can plan limb lengthening. After removal of hip Spica, joint mobilization and therapy is very important to get joint movement. Exact procedure is depend upon type of CFD. Hip reconstruction is possible in type 1&2. Paley type 3&4 cannot be reconstructed so rotationplasty (ankle joint will be converted in knee by rotating the whole lower limb osteotomy in proximal femur & conversion of flexor muscle to extensor muscle vice versa)is required.

Subsequent stage: Limb length discrepancy may vary from mild discrepancy to sever discrepancy. In sever length discrepancy, two to three time limb lengthening followed by epiphysiodesis in opposite normal limb. Usual age for limb lengthening is 3-4 year. 8-9 year then 12 year and afterward epiphysiodesis at around 12-13 year age.

Prognosis:  Paley type 1a & 2a can be given nearly normal limb

Type 2b & 3 need more major reconstruction. Type 4 need rotational palsy in which knee joint will be converted to hip joint by rotating the extremity. It is also major surgery and should be done experienced surgeon. 

 Tibialhemimelia—-

Tibiahemimelia is a rare congenital lower limb deficiency presenting with a wide spectrum of associated congenital anomalies, deficiency & duplication. It present with a wide range of pathology ranging from a hypoplastic tibia to complete absence of the tibia. The fibula is always present, may be normal, dysplastic or duplicate. Incidence of tibialhemimelia is reported to be one per million live births.

Paley classification system:

 Treatment: Tibia is the main weight bearing bone of leg. In the tibialhemimelia, tibia is partially or completely absent along with other associated problem proximal or distal to tibia. Till few decade, amputation was the treatment modalities in this problem. With the invention of Ilizarrov and Drohr Paley, now most of the limbs are being saved. Drohr Paley has proposed the classification system in increasing order of severity. Treatment is based on type of tibialhemimelia. Surgical procedure is based on grade and site of tibial deficiency, status of ankle, knee joint, quadriceps muscleand patella. Treatment of these problem start from 1 year of age. Surgical reconstruction are being done in different stages. Type one to four tibialhemimeliacan be reconstructable. Type 5 is difficult to reconstructed.  After correction of deformity,1-2 stage lengthening is required. Protection of limb is required for long time by the use of brace.

Surgical Procedure:

Stages of tibia reconstruction:

Distal transfer of fibula head

Tibialization of fibula

Fibulotalar fusion

Knee joint reconstruction

Ossification of cartilaginous tibial remnant- in type 2c tibial remnant is cartilaginous so they need ossification by the use of BMP.

Limb length alignment: limb lengthening 1-2 time followed by physiodesis near the maturity.

Other procedure:

Knee joint disarticulation- in type 5 (complete tibial aplasia)if patella is absent and quadriceps muscle is not functioning then knee joint disarticulation is required. Lower limb prosthesis is given to make child ambulatory. 

Syme amputation: Syme amputation means amputation from ankle joint. This procedure is required in the cases with failed reconstruction and very small feet.

 Fibular Hemimelia: Fibular hemimelia is a congenital deficiency, where part or whole of fibula is absent/ less developed/ dysplastic and associated with hypoplasia/ dysplasia of tibia and foot. The phenotype has a wide spectrum of pathology ranging from mild to severe limb length discrepancy, ankle/foot deformity with or without subtalar coalition, midfoot coalition and absent rays. Patient can have Limb length discrepancy, Foot and ankle deformities & deficiency, Tibial deformities, Genu valgum&Knee instability.

 Paley classification of fibular hemimelia: The Paley classification is based on the patho-anatomy& deformities of the ankle and subtalar joint. Each Paleyclassification type has a different surgical treatment

Step 1: predicting leg length discrepancyand determining the number of lengtheningsurgeries

Step 2: determining the Paley type of FH

Step 3: determining the surgical procedures

 Surgical procedure:

  1. SHORDT: Shortening Osteotomy RealignmentDistal Tibia— The SHORDT is a procedure that was designed to treat valgus instability of the ankle in patientswho have a hypoplastic fibula where the growth plate of thedistal fibula is present. Although in theoryit could also be used for a fibular remnant lacking a distalphysis, such remnants are so hypoplastic and have littlegrowth potential that they are not likely to remain a successfullateral buttress.
  2. SUPERankle procedure: Systematic UtilitarianProcedure for Extremity Reconstruction——– The goal of the SUPERankleprocedure is to correct the alignment and stability of theankle joint and foot. In this procedure, tendon lengthening, excision of fibular analog and reconstruction of foot is being done.
  3. Knee ligament reconstruction-
  4. Toe and metatarsal surgery
  5. Limb length equalization- limb length discrepancy can occur in long term so child will need limb lengthening. Limb lengthening is being done if discrepancy is more than 1 inch. One or two stage of limb lengthening along with epiphysiodesis of opposite sideof uppertibialphysis / distal femur will align length at maturity.

Radial Club Hand (radial longitudinal deficiency): radial club hand is a complex congenital abnormality of the radial or preaxial border of the extremity. It has wide range of presentation from hypoplasia of the thumb to complete absence of the radius and the first ray. It is also known as radial dysplasia. Diagnosis of radial club hand can be easily made by clinical examination. X-ray needed to see type of radial club hand. There are multiple syndrome that are associated with radial dysplasia. So child should be properly examined in detail to see other associated abnormality. Associated syndrome are Thrombocytopenia-absent radius syndrome (TAR) ,Fanconi anemia, holt-oram syndrome etc.

Treatment: in this problem treatment is depends upon type of radial club hand and grade of deficiency. Initially stretching exercise and splinting is given till the age of 1.5 year we plan for surgery in these children.

Surgical procedure:

Lengthening of radius- lengthening of radius by osteotomy and bone transport is required in type 1 radial dysplasia. Usually radius lengthening is being done in later part of childhood.

Centralization- due to absence of radius hand is shifted on radial side of ulna. So by the surgery hand is centralized over ulna head. Most common procedure but recurrence is common. 

Ulnarization- complication and recurrence is very common with centralization so now days ulna is shifted on radial side of hand (hand will on ulnar side of ulna). With this concept and stabilization of proximal corpus over ulnar head , recurrence is very rare.

Thumb reconstruction- if thumb is totally vestigial which is happening in most of the cases thumb index fixer can be reconstructed in thumb by micro-vascular surgery

Fibular hemimelia

Before surgery

After surgery : Final photographs and X-Ray

Tibial Hemimelia

Before surgery

Clinical photographs & X-Ray of child at presentation

After surgery                                             

Final Clinical photographs & X-Ray

Congenital femoral focal deficiency

Before surgery

   final photograph

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