Congenital Orthopedic Diseases

PAEDIATRIC CONGENITAL ORTHOPEDIC DISEASES

In this section, the most frequent paediatric congenital orthopedic diseases and the treatments will be explained.

1) DEVELOPMENTAL HIP DYSPLASIA

(CONGENITAL HIP DISLOCATION)

Definition:

A manifestation due to the incoordination of the hip during the developmental period of the children. It used to be defined as Congenital Hip Dislocation(CHD) but in present it is called as Developmental Hip Dysplasia(DHD) because the authorities declare that there won’t be any congenital hip dislocation and the dislocation may emerge due to pathologic developments by the time. The incoordination on hip joint may be present in 3 different ways:

  1. Dislocation(total dislocation): There is no contact between the surfaces of the hip joint.
  2. Subluxation(partial dislocation): The contact between the joint surfaces are limited.
  3. Dysplasia(inproper development): Underdevelopment of acetabulum, which constitutes the socket structure of hip joint.

The prevalance: Approximately 1 in 1000 live births.

How is the disease affected?

  • DHD, is a progressive manifestation, which causes changes on the anatomic components by the time and may lead to dislocation starting with dysplasia. The anatomic changes in the process is progressive.
  • Intra uterine problems during pregnancy and particularly  swathing   the infants after birth may frequently cause hip dysplasia.

Diagnosis:

Early diagnosis has vital importance. The diagnosis, particularly in neonatal period, is important to initiate the treatment in early period and to avoid the sequelas. General practitioners and pediatricians have significant responsibilities in the early diagnosis. Family history and birth type must be questioned first. Presence of DHD in family members, breech birth and swathing are the warning information. The final diagnosis is made through physical examination and through imaging methods. The parents must bring the infants for paediatrician examination in neonatal period for hip examination, and ultrasonography must be performed if hip symptoms are  suspected. Ultrasonography is the diagnostic method and do not cause any harm for patients.

Treatment:

0-18 month

Immediate treatment is initiated after the diagnosis. The treatment varies according to patient’s age. 0-6 months is the golden period for the treatment of  hip dislocation and developmental hip dysplasia. Sequela- free treatment chance is about 100% with the use of simple bandages in this period. Therefore; pediatricians must examine the hip at least once in this period.

However, the treatment is more difficult in months 6-18, the rate of success is still high. Surgery may be performed using closed or open reduction under anesthesia. The success rate is high.

1.5 years and older ages

This period is the most unfortunate period for children with hip dislocation. Treatment is quite hard and various problems may be encountered. Even if the procedures are performed, the children may have various problems, which may cause discomfort all through life. The children in this age group also need treatment. Otherwise, children may have a tough life and they may need external support in daily activities.

2) WHAT IS CONGENITAL PES EQUINOVARUS?

HOW IS THE TREATMENT?

Pes equinovarus is the introverted position of foot from the ankle and toe. It is a clear deformity that is present immediately after birth. The soles are positioned towards one another inward. It is a frequent congenital anomaly. The frequency is 1 in 1000 live births. The feet are smaller and shorter than the normal size. The cause of the deformity is unknown. The feet are on fetus position. The deformity is present in males 2-3 folds more than females. The incidence rate will be higher if there is a family history.

Treatment

Immediate treatment must be initiated. The aim is to provide pain-free, healthy functioning  foot. The feet will remain in introverted  position in untreated patients. Stretching exercises and massage are applied in the following days of birth. Gentle exercises must be applied because tough practises may cause damage on the cartilage. Orthopedic cast treatment is applied in the following days. The foot is corrected as much as possible and the position is preserved with the support of the cast. Gradual correction will be provided by the application of a new cast each week. Approximately 6-7 weeks of cast treatment is required. Fingertips are checked after each application to see if the cast is tight. There is a tendency towards the former position if the feet go out of the cast. Special splints are used after the required correction is provided with a cast. The children must be monitored until the age of 2-3 after providing special shoes for use. In some cases, the expected correction may not be provided.

Surgery is performed in the region where the correction is not adequate. Generally, the ankle correction is difficult. Therefore, Achilles tendon is lengthened. The procedure is generally performed when the infant is 6-12 months old. Various surgeries may be performed considering the degree of the deformity.

The children will have normal functioning feet and there will be no pain at all after accurate treatment.The parents must be confident that their children will have normal physical appearance and normal functioning feet  after the treatment of the specialists if there is no more accompanying problems. Properly treated pes equinovarus is not a disability and a totally normal and active life can be maintained. The success rate is 90%.

3) FIBULAR HEMIMELIA

It is the partial or total absence of fibula.The prevalence is 1 in 50000 births. It is the most common congenital anomaly of the long bones. Other congenital anomalities of the extremity may accompany. There are three types of fibula defect.

Aim of the treatment is to lengthen the bone as much as possible to equalize with the other limb, to eliminate the limb curvature, and try to provide a plantigrade walking. However, all practises may not be performed in a single surgery. Therefore, the parents must be informed that several procedures may be required for complete treatment.

4) TIBIAL HEMIMELIA

It is a fairly rare congenital disease characterised by the partial or total absence of tibia. Tibial hemimelia is less often than the fibular hemimalia. If prenatal diagnosis is made, termination of the pregnancy is recommended in some countries due to severe deformities and limb problems in children. The disease is classified in four types.

  • Type 1a : Accompanying with distal femur hipoplasia
  • Type 1b  : Absence of tibia, normal femur epiphysis
  • Type II   : Tibial hypoplasia accompanying with proximal tibia
  • Type III  : Absence of tibia accompanying with the presence of tibia distal
  • Type IV  : Diastasis between fibula and tibia on distal tibia accompanying with ankle instability

The most important factor on deciding the treatment is the presence of proximal tibia and patellar tendon. Reconstruction is performed in  the presence of this structure on MR imaging, and  amputation is performed in  the absence of the structure.

5)PFFD (PROXIMAL FEMORAL FOCAL DEFICIENCY)

PFFD is the total or partial absence of femur. The thighbone is fairly short. Flexion, abduction and  external rotation contracture are present on thigh bone. Aitken’s classification is used in diagnosis. The problems get severe and the success rate decreases as the degree of disease increases. Generally, there is the chance of better outcomes in patients with grade 1a and b. The most important problems are developmental hip and knee dysplasias accompanying with fairly short leg. Therefore, X-ray and MRI examinations of those joints are required before initiating a treatment procedure.

Initially, hip and knee joints must be stabilised to create an environment for lengthening. Then, the equalising of the leng is planned by performing several lengthening procedures. Equalising the leg cannot be achieved in patients with Grade 3 or Grade 4  because the limb is extremely short. Therefore, the aim will be  to provide movements in harmony with  prosthesis  for patients by performing Van nes rotation plasty surgery.

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