Tibial hypoplasia

Hypoplasia is one of the most common developmental anomalies of the lower limbs. This is a congenital pathology that significantly complicates the life of its owner. The concept of hypoplasia involves underdevelopment. It can be partial or complete (in case if a bone or limb is completely absent). At Ladisten, such defects are eliminated using hardware methods and reconstructive surgery. Many patients come to us with a diagnosis of tibial hypoplasia. This is the subject covered in the article.

Description of the disease

Ectromelia of the anticnemion is manifested by underdevelopment or complete absence of structural elements of the anticnemion. Among all pathologies, 0.22% is tibial hypoplasia and 0.48% is anomalies of the fibula.

If the limb is deformed or partially absent, a person can limp, the anatomical axes are broken, improper gait is acquired. This puts load on the spine and the entire musculoskeletal system. Over time, it is subject to significant changes.

In difficult situations, a person moves on his or her knees (for example, if there are stumps instead of legs) or crutches. Generally, hypoplasia is unilateral (only one limb is affected), but bilateral pathology also occurs.

The anomaly worsens the quality of life. A person cannot move around freely and independently. This causes psychological and physical discomfort. Therefore, treatment includes visits to a psychologist. The defect is eliminated surgically, and the earlier the operation is done, the better its result.

A complete classification of ectromelia was developed back in 1965. It includes three groups:

1. Complete absence of one bone (on both or only one side);
2. Partial absence of the bone;
3. Combination of abnormal development of the anticnemion with other congenital malformations.

An early 1961 classification says that all limb defects are divided into:

• lateral (bone deformation along its length);
•  transversal (manifested by a stump).

In addition to the fact that the limbs are affected, in some cases the nervous system is damaged. With underdevelopment of the legs, there may be no lumbar enlargement of the spinal cord, some nerve bundles may be damaged so that their conductivity is reduced.

Causes

Development of the deformity begins in the womb.

Aplasia of the tibia (its complete absence) or hypoplasia (underdevelopment) can be caused various reasons:

• entanglement of the limb with the umbilical cord. As a result, the leg does not receive enough nutrients for full development, it becomes deformed or stops growing;
• rupture of the embryonic membranes. The limb gets into the hole and the edges close around it tightly. Amputation occurs;
• genetic mutations. Sometimes the disease is the result of another pathology or poor heredity;
• congenital bands – constriction rings blocking the limb development in the womb;
• skeletal deformities due to impairments in the development of connective tissue. For example, chondroplasia – change in the process of bone tissue building, or osteodysplasia – incorrect embryonic anlage of bone tissue;

The risk factors that can cause fetal abnormalities should not be ignored:

• alcohol and drug abuse;
• taking certain medicines (usually, the effect on the fetus is described in the instructions. Therefore, it is very important to read it before taking any medicines and consult your doctor);
• exposure to toxins and harmful chemicals, for example, while working in hazardous industries;
• radiation.

Whatever the reason, the consequences of deformations are very sad. They often lead to disability.

Symptoms

Tibial hypoplasia is visible to the naked eye. The legs suffer from deformation and do not fulfill their functions. During a visual examination, such abnormalities can be noted:

• shortening and bending of the anticnemion inward;
• deformed tibia and fibula;
• patellar abnormalities are visible;
• muscles of the thigh and anticnemion are atrophied;
• abnormalities of the muscles of the foot.

Accompanying signs may be manifested by the absence of fingers or doubling of the bone.

The patient complains of psychological discomfort, lameness and different length of limbs. Pain can occur over time if arthrosis or osteoporosis develops against the background of hypoplasia.

Diagnostics

Hypoplasia is diagnosed with help of an X-ray made in two projections. Additionally, blood tests, urine tests, biopsy can be prescribed to determine biochemical parameters and tissue condition.

Early diagnosis at the stage of childbearing is important. Mandatory screenings are performed 3 times during pregnancy. In some cases, intrauterine manipulations can be performed to achieve correct growth of the limb.

Preventive measures

There are no specific methods for preventing hypoplasia. A woman should undergo prenatal screening on time, give up bad habits during pregnancy and take a sufficient amount of vitamins and minerals.

Treatment

Tibial hypoplasia is eliminated only by surgery. The goals of treatment are:

• to return the limbs to an anatomically correct shape and set the axes;
• to eliminate cosmetic defects and psychological discomfort associated with them. Often, hypoplasia of the lower limb leads to Genu valgum. After the operation on the tibia, this defect is also eliminated;
• to restore full functions of the lower limbs.

The treatment methods are based on use of the Veklich device, osteotomy and reconstructive surgery. The leg is cut in places where correction is needed. Parts of the bone are dissected and fixed to be knitted again in the correct position. The desired position is fixed accurately with help of the device designed by Dr. Veklich.

If the restoration of nerve fibers is required, additional microsurgical manipulations are performed.

Several months after the operation in Ladisten, the patient receives the maximum possible restoration of the legs, can move around freely and expand his or her physical activity.

All cases are individual. In addition to correcting hypoplasia, joint or muscle correction may be necessary. Therefore, the outcome of treatment varies. Experts of Ladisten clinic make every effort and use every opportunity to form an anatomically correct limb and restore its functions. 

Sourses 

1. Classification of longitudinal ectromelia of the lower leg V.I. Shevtsov, A.M. Aranovich, V.D. Makushin, O.K. Chegurov. Federal State Institution of Science “Russian Scientific Center”
2. Restorative Traumatology and Orthopedics “named after Academician G.A. Ilizarov Roszdrav “, Kurgan (Director – Honored Scientist of the Russian Federation, Corresponding Member of the Russian Academy of Medical Sciences, Doctor of Medical Sciences, Professor VI Shevtsov). The genius of orthopedics number 4, 2005 Popkov DA .. “On the classification of congenital malformations of the lower extremities, accompanied by shortening” The genius of orthopedics, no. 1, 2004, pp. 9-16.
3. Baindurashvili A.G., Karimova L.F.Congenital malformations of the shin bones in children: monograph / A.G. Baindurashvili, L.F. Karimova. – SPb. : SpetsLit, 2012 .– 207 p. V. D. Makushin, and O. K. Chegurov.
4. V. D. Makushin, and O. K. Chegurov. “Elimination of the vicious positions of the leg and foot with aplasia of the tibia with the Ilizarov apparatus” Genius of Orthopedics, no. 1, 1995, pp. 71-72.