Birth Defects

Birth Defects

There are many possiblities when it comes to birth defects. Please take a look at some of the problems are surgeons are skilled at dealing with:

Congenital Breast Malformation

Congenital breast malformations occur when either the breast, chest, or both develop abnormally, leading to asymmetry compared to the other side. These malformations can range in severity; some are so minor that they may not be recognized while others from may cause significant functional, psychological, and aesthetic concerns.

Depending the severity of the problem, future ability to breast feed may or may not be affected. Some malformations are noticed at birth while others become evident during puberty as the breast matures.

We are happy to see your child at any age to examine and discuss future treatments, though these may be years down the road. These malformations generally fall into one of two categories, the presence of extra (or accessory) breast tissue or the absence or underdevelopment of breast tissue.

Accessory breast tissue is commonly located in the arm pit or groin. It may not cause problems until puberty when the breast tissue grows, which may cause asymmetry and discomfort especially during menstruation. Treatment consists of excising the extra breast tissue in its entirety.

Breast asymmetry due to undergrowth of one or both breasts may be isolated or associated with other abnormalities in the chest wall and sometimes upper extremity. However, treatment usually does not begin until the other breast is fully or almost fully completed growing. This allows for the reconstructed breast to best match the other breast. Reconstruction can be done several ways depending on the severity of the deformity:

  • Fat from the abdomen or thighs can be injected into the smaller breast to equalize size and symmetry
  • The breast and skin can be stretched with a tissue expander to match the other side and then an implant can be placed to keep the breast in this more symmetric form.
  • Skin and fat from the abdomen can be transferred to the smaller breast.

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Congenital Hand Anomalies

The human hand is complex organ containing skin, muscle, tendon, vessels, nerves, and bone. As the human fetus forms, an intricate symphony of growth, regression, and differentiation occurs to form a normal human hand.

Errors can sometime occur in this complex and intricate process, leading to various congenital (in-born) hand anomalies. The most common of these include polydactyly (an extra-digit, usually a pinky finger or a thumb), syndactyly (two fingers do not separate together), hypoplastic thumb (thumb proportionately smaller than the other digits).

Polydactyly

This is the most common hand anomaly. This usually presents as an extra 'nubbin' on the pinky finger side of the hand. The base of these extra digits can either be very thin or quite substantial. In either case, these require excision. Hospital nurseries used to remove these by tying a thread around the base, which ultimately causes the extra 'nubbin' to fall off. However, this method of removal can lead to persistent irregularity and sensitivity in the area, as the 'nubbin' (regardless of how small) carries a sensory nerve which can become irritated if tied off. Complete excision can be done in the office, with baby awake using numbing medicine.

In children with an extra thumb, removal is a bit harder as the extra thumb tends to be well-formed and fused at the joint or the bone. Removal of these does require the operating room.

Syndactyly

This presents as two adjacent fingers without a normal finger space. Syndactyly can be simple (i.e. a skin bridge exists between the digits) or it can be complex (i.e. bone, tendon, and blood vessels can be linking the two digits). Separation of the digits is best done 12-18 months of age, when the hand has grown some and before children start to develop fine motor control and manipulation. This involves going to the operating room to separate the finger. After surgery, children will be placed in full cast to prevent disrupting the repair.

Hypoplastic thumb

Some children can have a small thumb. This finding is highly variable, in that some children will hardly have a noticeable difference whereas others will complete not have a thumb. Treatment depends on the extent of the deformity. In those with a hardly noticeable difference who effectively use their thumb and hand, no correction is required. In those with a noticeably smaller thumb, the space between the thumb and index finger can be deepened. In those with very small or absent thumb, more complex reconstructive techniques are required.

There exist many other, more rare in-born hand anomalies.

If you'd like more information or want to schedule an appointment, please call 316-688-7500 or click below.

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Small Jaw (Micrognathia) and Breathing Problems

Most children tend to have a smaller lower jaw (mandible) compared to their upper jaw (maxilla), but, as they age, the lower jaw catches up with the upper jaw. However, some babies are born with a very undersized or recessed lower jaw. This condition is called micrognathia.

An overly small lower jaw can cause the tongue (which is attached to the lower jaw) to sit too far back and block off the airway (wind pipe). This can lead to difficulty breathing, eating, and sleeping. This condition can be mild or very severe. In mild cases, children can have problems feeding (symptoms include not gaining weight, gasping for breath or getting tired during feeds) or obstructive sleep apnea (i.e. the airway in intermittently blocked off by the tongue during sleep). In severe cases, children may need a tracheostomy (i.e. a hole made in the neck that allows for air to come through the hole into the lungs rather than through the mouth).

Mandibular distraction osteogenesis is a surgical procedure that lengthens the bone of the lower jaw. As the jaw moves forward, the tongue also gets pulled forward to open the airway and keep it from blocking the airway. The goal of distraction is to open up the airway to allow for better breathing, feeding, and healthy development.

To determine if your child is a candidate for distraction, some testing is required. A sleep study tells us how severe the blockage of the airway is and whether it is related to just the tongue or other causes. An endoscopy is a long, very thing video camera that looks inside the airway and tells us if the tongue and other structures might be blocking the airway.

Because airway obstruction is usually present at birth, many babies undergo the testing mentioned above in the first few weeks of life, many while still in the hospital after birth. However, some babies and children who have milder forms of obstruction and struggle with feeding and breathing may not be diagnosed until later in life. Often, even teenagers can struggle with sleep apnea and breathing issues. If you are concerned, your pediatrician or neonatologist can recognize these symptoms and refer to be evaluated.

Mandibular distraction can be done at any age to resolve airway obstruction caused by the tongue and small jaw. Your child will be taken to the operating room, where a cut in the skin is made along the lower edge of the jaw. This cut usually heals very well. The lower jaw bone is then carefully cut which allows for a small gap to form in the bone. The distractor, which is a metal device, is then attached to the mandible. This small gap created then fills in with bone, while the distractor makes the gap larger every day to allow more and more bone to form. By increasing this gap and allowing it to fill with bone, the jaw is made longer where it was short before. The distractor does need to be 'turned' (adjusted every day) to stretch the gap. This period of turning usually lasts 2-4 weeks depending on how much the lower jaw needs to be stretched. After this, the distractor is left in place for 4-6 weeks to allow the newly created bone to harder and firm up. Once this period is completed, the distractor is removed in the operating room.

Teenagers may be candidates for a single operation to move the jaw forward and help with breathing, however this depends on the severity of the airway blockage.

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Pediatric Facial Trauma and Maxillofacial Reconstruction

Injury to the soft tissue and/or the bones of the face can be frequent occurrence in children, especially in the summer months when they participate in summer sports and tend to be more active. Fractures (breaks) of the facial bones can lead to significant problems.

The most common of these injuries is a broken nose, which can cause problems with breathing or facial asymmetry. Other common fracture locations include: the jaw (mandible) which can cause problems eating and bringing the teeth together as they fit before, the cheek bone which can alter facial appearance, and the eye socket (orbit) which can lead to double vision (seeing two) and cause the eye ball to sit an abnormal position.

Most of the time, these injuries are diagnosed when they are fresh and fixed soon after injury. Yet sometimes, these injuries are missed and can lead to long term facial deformities or functional problems. Whether acute or chronic, repairing these requires attention to detail and precise knowledge of skeletal and soft tissue anatomy in order to restore function and appearance, especially in children whose face is still growing.

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Facial Paralysis

Facial paralysis occurs when the facial nerve, which controls and powers the muscles of your face, is inactivated. This can result from trauma, tumor, viral infection, or it can be present at birth. The extent of injury to the nerve is variable. Patients with facial paralysis can struggle with closing their eye, which can lead to dry eyes and damage to the outer covering of the eye. They often also struggle with inability to smile, which leads to facial asymmetry and can cause much psychosocial stress especially in public situations.

Eye closure is usually reconstructed by placing a small gold weight under the skin of the upper eyelid, which allows for the eye to close more easily.

Smile can be reconstructed with a static technique where the corner of the mouth is tacked up. This provides symmetry at rest but no movement. The other very powerful technique is facial reanimation, which restores a dynamic smile. This procedure involves the transfer of a muscle from one part of your body (usually your thigh) to your face. The muscle is placed under the skin and attached to the corner of the mouth. A nerve in your face is then borrowed and plugged into the muscle. This muscle then gets activated by this nerve and lifts the corner of the mouth when you smile.

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