Limb Deformity

Achondroplasia – or dwarfism, is a genetic condition resulting in abnormally short stature and disproportionately short limbs relative to the body's trunk and rhizomelic disproportion of the limb segments (relating to the hip or shoulder joints). Associated deformities include genu varum (bowlegs), genu valgum (knock knees), hip flexion deformity with compensatory hyperlordosis (exaggerated lumbar curve) of the spine and spinal stenosis (narrowing), dislocated radial head, flexion deformity of the elbow and trident hand. We perform extensive limb lengthening (ELL) for stature and for restoration of proportion of the limbs to the trunk, in which the upper to the lower bone segments (femur to tibia, humerus to forearm) is combined with correction of deformities of the ankles, knees, hips, elbows and hands. The correction of the hip deformity indirectly improves the hyperlordosis and spinal stenosis.

Amputees with Residual Short Limbs – extremely short residual limbs (stumps) limit the prosthetic options available. To improve prosthetic wear and function we lengthen the residual limb of above knee amputation, below knee amputation, foot amputation, above elbow amputation and below elbow amputation. Even bilateral cases can be treated.

Beckwith Wiedemann Syndrome – is an overgrowth disorder which manifests in many different ways including hemihypertrophy, (one side of the body is larger than the other). Equalization of limb length is carried out by lengthening the short leg.

Cartilage Hair Hypoplasia (McKusick Syndrome) – is a disorder of bone growth resulting in short stature and other skeletal abnormalities as well as fine, sparse hair and compromised immune system function.  These patients have disproportionate dwarfism but are usually shorter than achondroplastic dwarves. We successfully treat them by extensive limb lengthening of both femurs and tibias.

deCongenital Dislocation of the Patella – is a dislocation of the knee cap from birth usually associated with rotatory subluxation of the tibia on the femur, with internal femoral torsion and with flexion contracture of the knee. If left untreated, arthritis of the knee will develop. The flexion contracture of the knee makes the limb appear shorter than the other side. This condition can be unilateral or bilateral. The best treatment for this condition is the superknee procedure.

Hemiatrophy and Hemihypertrophy – is a condition where one side or part of the body is larger than the other. We equalize the limb length in these patients either by epiphysiodesis (growth plate closure) or by limb lengthening. Patients with this condition should receive an ultrasound for Wilm’s tumor of the kidney until the age of 6.

Hurler's Disease – is a hereditary disease characterized by severe abnormalities in the development of skeletal cartilage and bone often resulting in dwarfism and limb deformities. We correct the limb deformities associated with this condition.

Hypochondroplasia – a form of dwarfism similar to but milder than achondroplasia, (see also) and also characterized by disproportion of the limbs to the trunk and rhizomelia (disproportion of the tibia to the femur and the forearm to the humerus). Unlike achondroplasia, it involves less facial malformation and less spinal stenosis (narrowing) and lumbar hyperlordosis (exaggerated curvature of the lumbar spine). We treat these patients with extensive limb lengthening techniques for the femur, tibia and humerus similar to those used for achondroplasia. The only difference is that for hypochondroplasia we do less lengthening in amount and less deformity correction.

Ollier's Disease – a condition where multiple enchondromas (benign tumors of cartilage) are found (usually asymmetrically) throughout the skeleton leading to leg length difference and deformity. Ollier’s leads to the second largest magnitude of leg length difference after CFD.  Ollier’s is treated by staged lengthenings of the short limb combined with deformity correction. It is not necessary to remove the tumors in most cases except in the hand. The tumors will heal if one cuts across them with the osteotomy (bone cutting).

Post Traumatic Growth Arrest – this condition occurs when there is damage to a growth plate resulting from a fracture. The growth plate may completely stop growing or partially arrest. In the former, a limb length discrepancy results, the magnitude of which depends on the age of the arrest. With partial growth arrest a deformity may result if the partial closure is peripheral, due to asymmetric (even) growth of the growth plate. If the partial closure is central, it may tether growth (leading to leg length difference) or alter the shape of the joint especially in the knee joint. For compete growth arrest the limb can be lengthened or the opposite corresponding growth plate can be closed depending on the age.  For partial arrest, the bridge of bone can be removed in younger patients to allow symmetric growth to resume, or the growth plate can be closed and an osteotomy (bone cutting) performed to realign the joint.

Posteromedial Bowing of the Tibia – is a congenital bowing of the tibia and a calcaneogalgus (heel bone) foot deformity.  Patients with posteromedial bowing of the tibia usually develop a limb length discrepancy and ankle problems. If treated early the ankle problems can be prevented. The goal of treatment is correction of deformity and to equalize limb length.

Pseudoachondroplasia – a severe type of dwarfism characterized by joint laxity and severe deformities affecting the hips, knees and ankles. Realignment of the joints is the first priority. Extensive limb lengthening can be done with neutralization of joint forces by extending the external fixators (device) across the joints.

Radial Club Hand – results from congenital radial deficiency where the radius is completely or partially absent. It is associated with an absent thumb in many cases except when there is TAR syndrome. There may also be limited motion of the elbow. Many cases are bilateral. Numerous other associated anomalies can be found including renal and cardiac anomalies, hemivertebra, treacheo-esophageal fistula, imperforate anus, thrombocytopenia, and Fanconi’s anemia.  Correction of the hand deformity and instability is carried out by ulnarization and tendon transfer.  Pollicization (surgical construction) of the index finger is used if the thumb is absent. Serial lengthening procedures are carried out to equalize and create normal limb length.

Roberts Syndrome – a very rare genetic disorder resulting in limb and facial abnormalities with all four limbs usually affected.  According to the deficiency, upper and lower limb surgeries are carried out.

Russel Silver Syndrome – a rare disorder affecting growth in stature and resulting in a leg length discrepancy. Limb lengthening or epiphysiodesis (growth plate removal or partially rotated) can be used to equalize the discrepancy. Growth hormone may be useful to treat the short stature.

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