Category Archives: Bone And Muscle Defects

Congenital Defects Of Limbs And Joints

  • Intra-uterine growth retardation, genetic abnormalities, and displacement of different parts due to mechanical action, can result in limb and joint defects.
  • Physical examination of the newborn, ultrasound scan, and x-rays, can diagnose these defects.
  • Surgical correction is often required to restore normal function and appearance.

Incomplete development, missing of certain parts, and structural deformities, can occur due to various reasons. Often other defects or abnormalities may co-exist with limb and joint defects. Genetic factors may affect the development of the bones in the limbs and joints. Disruption in the normal growth and development of hands and legs can occur in the mother’s womb. Constriction of the growing parts by muscle fibers may prevent further development. Hip dislocation may occur due to mechanical force, especially by the pressure exerted on the limbs at the time of birth. Chromosomal defects may be responsible for certain abnormalities in the hands and legs. Sometimes the reason for the defect cannot be determined.

As a side effect of a drug named thalidomide, used for treating morning sickness in pregnant women, many infants were born with severe deformities in the period between the 1950s and the 1960s. Instead of proper limbs, they had poorly developed hands and legs or even short stumps in their place.

Defects of the limbs occur either horizontally or vertically. Difference in the length of the limbs and abnormality in only one side of the hand may occur. Children learn to use the malformed hands or artificial limbs quite well. Surgical correction is done whenever possible to enhance the function and appearance of the limbs. Prosthesis can be fitted, if necessary, once the infant learns to sit independently.

Birth defects involving the hands occur frequently. Incomplete development of one of the hands, absence of a hand or certain parts of a hand, duplication of fingers, and webbing between the fingers, are some of the common defects. Missing several fingers as well as having extra fingers, usually an extra thumb or a little finger, are also frequently occurring deformities. Overgrowth of the hands is another defect in which either the fingers or the entire hand is larger than normal. Surgical correction is often required to restore not only the normal appearance, but also the proper function of the hands.

A condition called developmental dysplasia of the hip may occur in some infants, more frequently in girls and breech babies. This defect used to be known as congenital dislocation of the hip, as the head of the femur or the thigh bone, and the socket in the hip bone of the infant, do not form the hip joint, but are found separately. The socket may not be large enough to accommodate the head of the femur. Infants whose close relatives have this condition, as well as girls who are born in breech position, should be examined at birth for any difference in the appearance between the two sides of the hip. An ultrasound scan also should be done to confirm the diagnosis.

Early diagnosis of the condition enables early treatment. Physical examination of the infant followed by ultrasonography is preferred in the first four months. Older infants may be subjected to x-ray examination. Using triple diapers was an earlier method to correct this condition, but it is no longer preferred. A soft brace called Pavlik harness is considered the ideal treatment for this defect. This brace spreads the knees outwards and upwards and holds the leg in this position ill the dislocation is resolved. If the condition does not improve by the time the infant is six months old, the hip-joint is fixed surgically.

Another birth defect called clubfoot may occur in some infants either due to the position of the foot in the womb or because of certain structural abnormalities. In this condition, also known as talipes equinovarus, the hind foot and the ankle are turned inwards and downwards. The forefoot is also twisted inwards. When the defect is found to be due to the abnormal positioning of the foot when the fetus was inside the womb, it is referred to as positional clubfoot. On the other hand, if structural abnormality is present, it is regarded as true clubfoot. Underdevelopment of the calf muscles and leg bones are often present along with true clubfoot.

If the defect is found to be positional clubfoot, keeping the affected part in a cast and stretching the ankle and the foot of the infant with physical therapy may be sufficient to correct the abnormality. The same treatment given early enough may help newborns with true clubfoot also, but surgical correction is often required.

Inwardly turned foot is also a defect, referred to as metatarsus adductus, which often limits the mobility of the ankle and other joints. Depending on the extent of the defect, various treatment options are considered. Mild defects usually get resolved spontaneously. Specially designed orthopedic shoes and splints may have to be worn by the child for several years. In a few cases, surgical correction may be necessary.

Frozen joints, which cannot be bent, is an abnormal condition known as arthrogryposis multiplex congenita, occurring in some newborns. Muscular weakness is also present in most cases. The exact cause of this abnormality is not clear. Reduced movement of the fetus inside the womb may be a reason for the frozen joints and weak muscles. The nerves responsible for bringing about the joint movements are also found to be impaired in some infants with this condition. Dislocation of knees, hips and elbows is also common. Non-surgical treatment involves keeping the affected parts in casts and manipulating the joints and exercising them for better movement. Surgical option, in which the joints are released from the tissues connected to them, is found to be beneficial in restoring normal movements of the joints.

A Walking Miracle – The Ponseti Method for Clubfoot Treatment:

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Congenital Facial Defects (Cleft Lip and Cleft Palate)

Congenital defects may affect the muscles and bones anywhere in the body, but they occur more frequently in the head, face, spinal cord and the different parts of the lower limbs. Incomplete development of the muscles and the bones is the usual reason of the birth defects. Misalignment of the different structures also may cause abnormalities in the infant. Bone and muscle defects can impair the function of the affected body part, in addition to the abnormality in appearance. Surgical correction is required if the defect causes severe symptoms. Surgery may involve the realignment of the various structures and extensive reconstruction of the affected parts.

Cleft palate and cleft lip are the most frequently occurring congenital defect affecting the face and the head of the infant. In cleft lip, the upper lip is divided into two beneath the nose. Cleft palate results from the incomplete closure of the roof of the mouth causing the nose and the mouth to remain connected. These two defects are usually present together in the affected infants.

In addition to facial disfigurement, cleft lips impede feeding, as the infant is unable to close its mouth around the nipple to suck in the milk. Speech, as well as eating, is affected by cleft palate. The roof of the mouth can be closed by a temporary dental device to facilitate feeding. Surgical correction is the permanent solution for both cleft palate and cleft lips. A folic acid supplement taken prior to pregnancy, as well as during the first three months of pregnancy, is found to be effective in reducing the risk of these defects in the infant.

 Small lower jaw is a facial defect which interferes with breathing and feeding. This condition may be caused by either Treacher Collins syndrome or Pierre Robin syndrome, both of which cause several other abnormalities related to the face and the head. Surgical correction of the small lower jaw can help reduce the difficulties with feeding and breathing.

Watch This Video about Cleft Lip and Cleft Palate:

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