Congenital anomalies of the musculoskeletal system are usually readily identiied at birth. Congenital struc- tural anomalies involving the skeleton include pectus excavatum, pectus carinatum, limb deiciencies, poly- dactyly or syndactyly, metatarsus adductus, congenital clubfoot, and osteogenesis imperfecta. A developmen- tal anomaly that may be diagnosed at birth or later in life is developmental dysplasia of the hip. A muscular condition, torticollis, most often presents as a congeni- tal condition but may also develop after birth. Tibia vara is a developmental disorder affecting young chil- dren. Rarely, a developmental positional alteration such as genu varum, genu valgum, or pes planus will persist past the usual age of resolution or cause the child pain.
If those situations occur, bracing, orthotics, or surgical correction may become necessary.
Thus far, there is insuficient evidence that sup- ports a particular strategy of pin care. More randomized trials are needed. The National Association of Ortho- paedic Nurses has published minimal guidelines, which include:
• Perform pin care daily or weekly after the irst 48 to 72 hours.
• The most effective solution for pin site care may be chlorhexidine 2 mg/mL but 0.9% sodium chloride solution is an alternative.
• Teach children and their families pin site care along with instructions on the signs and symptoms of in- fection before discharge (Holmes, Brown, & Pin Site Care Expert Panel, 2005; Bonner, 2009).
Since the research available is minimal, these recommendations are made tentatively (Holmes et al., 2005). Therefore, interventions for pin care need to be individualized based on the child’s con- dition and response to treatment and according to institutional policy or the physician’s or nurse prac- titioner’s orders. Certain physicians or nurse prac- titioners prefer the site to be cleaned with normal saline; others choose a solution with antibacterial properties. Some institutions recommend removal of all crusts formed on the skin around the pin; others do not. The rationale for crust removal is to promote free drainage and prevent the surrounding skin from adhering to the pin. A keyhole dressing may be nec- essary around the pin if drainage is present. No matter
EVIDENCE-BASED PRACTICE 45.1 PIN SITE CLEANING METHODS AND INFECTION PREVENTION
STUDY
External ixation (metal pins) is used to immobilize bones while fractures heal. By the nature of pin insertion into the bone, pin sites place the child at risk for development of an infection. Numerous studies have been conducted to evaluate the effectiveness of pin site care. To date, pin site care is usually determined by physician, nurse prac- titioner, or institution preference. The authors reviewed randomized controlled studies that evaluated the effect on infection and other complication rates of different methods of cleansing or dressing of pin sites. The inter- ventions reviewed compared any type of cleaning method versus no cleaning, different cleansing solutions, site care performed daily or weekly, and varying dressing regimens.
Findings
The results were inconclusive. No particular method of pin site care was determined to be statistically signiicant
in reducing infection or other complication rates from orthopedic pins.
Nursing Implications
Despite the lack of clear insight from this study, it remains important for nurses to continue vigilance regarding pin site care. Ongoing assessment of pin sites for signs of infection and monitoring of the child’s temperature are particularly important. Provide pin site care according to the physician’s or nurse practitioner’s preference or institution’s protocol. With the lack of conclusive evidence related to pin site care, nurses caring for orthopedic children with orthopedic disorders are in a prime position to develop and execute a well-designed research study related to pin site care.
Adapted from Lethaby, A., Temple, J., & Santy, J. (2008). Pin site care for preventing infections associated with external bone ixators and pins. Cochrane Database of Systematic Reviews, 4. Retrieved July 31, 2010, from http://www2.cochrane.org/
reviews/en/ab004551.html
Nursing Assessment
Elicit the health history, noting progression of the defect and effects on the child’s cardiopulmonary function. Note shortness of breath, exercise intolerance, or chest pain.
Observe the child’s chest for anterior wall deformity, not- ing depth and severity. Auscultate the lungs to determine the adequacy of aeration. Radiographs, computed tomog- raphy (CT), or magnetic resonance imaging (MRI) may be used to determine the extent of the anomaly and com- pression of inner structures.
Nursing Management
Prepare the child preoperatively by allowing a tour of the surgical area and the pediatric intensive care unit.
Introduce the child to the pain scale that will be used in the postoperative period.
Postoperatively, nursing management focuses on assessment, protection of the surgical site, and pain management. Auscultate lung sounds frequently to determine the adequacy of aeration and to monitor for development of the complication of pneumothorax.
Assess for signs of wound infection that would neces- sitate removal of the curved bar. During the irst few postoperative days positioning is challenging; do not allow the child to roll in bed, lie on either side, or rotate or lex the spine (these positions may disrupt the bar’s position). Administer analgesics as needed either intra- venously or via the epidural catheter. Teach families that the child will not be allowed to lie on his or her side at home for 4 weeks after the surgery to ensure that the band does not shift. Encourage aerobic activity at home after being cleared by the surgeon (this will increase the child’s vital capacity, previously hindered by the pectus).
The bar will be removed 2 to 4 years after the initial placement.
Limb Deficiencies
Limb deiciencies, either complete absence of a limb or a portion of it or deformity, occur as the fetus is devel- oping. These defects are attributed to an amniotic band constricting the limb, resulting in either incomplete development or amputation of the limb. Many children born with limb deformities also have congenital anoma- lies such as craniofacial abnormalities and cardiac and genitourinary defects (Morrissy, Giavedoni, & Coulter- O’Berry, 2006; Polousky & Eilert, 2009).
Therapeutic management is aimed at improving the child’s functional ability. Physical therapy and occupa- tional therapy may be helpful. Adaptive equipment such as a prosthesis may also be prescribed.
Pectus Excavatum
Pectus excavatum and pectus carinatum are anterior chest wall deformities. Pectus excavatum, a funnel- shaped chest, accounts for greater than 90% of all con- genital chest wall deformities (Boas, 2011). A depres- sion that sinks inward is apparent at the xiphoid process (Fig. 45.10). Pectus carinatum, a protuberance of the chest wall, accounts for only 5% to 15% of anterior chest wall deformities (Boas, 2011). The remainder are mixed deformities.
Pectus excavatum does not resolve as the child grows;
rather, it progresses with growth. The chest depression may be minimal or marked. When the pectus is more pronounced, cardiac and pulmonary compression occurs.
Symptoms of this compression most often present during puberty, when the pectus quickly worsens. Children may complain of shortness of breath, withdraw from physical activities, and have a poor body image.
Therapeutic Management
Therapeutic management of pectus excavatum is based on the severity and physiologic compromise. Options include observation, use of physical therapy to work on muscu- loskeletal compromise, and surgical correction, preferably before puberty, when the skeleton is more pliable. Various surgical techniques may be used and generally involve either the placement of a surgical steel bar or using a piece of bone in the rib cage to lift the depression. This discussion will focus on care of the child who undergoes surgical steel bar placement for pectus correction.
FIGURE 45.10 Pectus excavatum: note the depression in the chest wall at the xiphoid process.
Therapeutic management includes tying off the additional digit until it falls off or surgical removal of the digit. No treatment is usually required for syndactyly, though surgical repair is sometimes performed for cos- metic reasons.
Nursing Assessment
Inspect the hands and feet for the presence of extra dig- its. Note whether the additional digits are soft (without bone) or are full or partial digits with bone present. Note location of webbing.
Nursing Management
If the digit is tied off, observe for expected necrosis of tissue and eventually loss of the extra digit. When surgi- cal removal is necessary, provide routine pre- and post- operative care as appropriate.
Metatarsus Adductus
Metatarsus adductus, a medial deviation of the forefoot, is one of the most common foot deformities of childhood (Fig. 45.12). It occurs most commonly as a result of in utero positioning (Hosalkar, Spiegel, et al., 2011). Half of all cases occur bilaterally (Hosalkar, Spiegel, et al., 2011).
The degree of lexibility is important and determines treatment. If the forefoot is lexible past neutral manipula- tion passively, observation is often suficient. If the forefoot is lexible only to neutral manipulation, stretching exer- cises may be beneicial. If the forefoot is rigid and is not lexible to neutral manipulation, serial casting, preferably before the age of 8 months, may be required (Hosalkar, Spiegel, et al., 2011). Surgical intervention is rarely needed.
Nursing Assessment
Note the extent of limb deformity, providing an accurate description of the presence or absence of a portion of the arm or leg, or missing ingers or toes. Assess the child’s ability to use the extremity as a helper (arms) or in ambulation (legs). Determine status of acquisition of developmental skills.
Nursing Management
Reinforce prescribed activities that are meant to improve the child’s function. Provide activities in which the child is capable of participating. If the limb deiciency is signii- cant, refer the infant to the local early intervention ofice as soon as possible after birth. Early intervention, avail- able in all 50 states, is designed to promote development from birth to age 3 years. Absence of a limb or a sig- niicant portion of a limb will have a considerable impact on the child’s ability to meet developmental milestones as expected.
Polydactyly/Syndactyly
Polydactyly is the presence of extra digits on the hand or foot (Fig. 45.11). It affects African Americans more fre- quently (Kaneshiro & Zieve, 2009). One third of the time, polydactyly occurs in both the hand and foot (Hosalkar, Spiegel, & Davidson, 2011). It usually involves digits at the border of the hand or foot, but can also occur by a central digit (Hosalkar, Spiegel, et al., 2011). Syndactyly is webbing of the ingers and toes. Both polydactyly and syndactyly can be inherited and associated with other genetic syndromes (Carrigan, 2011; Hosalkar, Spiegel, et al., 2011; Kaneshiro & Zieve, 2009).
FIGURE 45.11 Note additional digits (toes) of polydactyly.
FIGURE 45.12 Metatarsus adductus: note medial deviation of the forefoot.
Clubfoot may be classiied into four categories: pos- tural, neurogenic, syndromic, and idiopathic. Postural clubfoot often resolves with a short series of manipula- tive casting. Neurogenic clubfoot occurs in infants with myelomeningocele. Clubfoot in association with other syndromes (syndromic) is often resistant to treatment.
Idiopathic clubfoot occurs in otherwise normal healthy infants. The approach to treatment is similar regardless of the classiication.
Therapeutic Management
The goal of therapeutic management of clubfoot is achievement of a functional foot; treatment starts as soon after birth as possible. Weekly manipulation with serial cast changes is performed; later, cast changes occur every 2 weeks. Other infants require corrective shoes or brac- ing. In some infants surgical release of soft tissue may be necessary. Following surgery, the foot is immobilized with a cast for up to 12 weeks, and then ankle–foot orthoses or corrective shoes are used for several years.
Complications of clubfoot and its treatment include residual deformity, rocker-bottom foot, awkward gait, weight bearing on the lateral portion of the foot if uncor- rected, and disturbance to the epiphysis.
Nursing Assessment
Note family history of foot deformities and obstetric his- tory of breech position. Inspect the foot for position at rest. Perform active range of motion, noting inability to move foot into normal positioning at midline. Radio- graphs are obtained to determine bony abnormality and note progress during treatment.
Nursing Management
Perform neurovascular assessment and cast care for infants requiring casting. Provide emotional support, as treatment often begins in the newborn period and families may have a dificult time adjusting to the diagnosis and treatment required for their new baby. Teach families cast care and about the use of orthotics or braces as prescribed.
Osteogenesis Imperfecta
Osteogenesis imperfecta is a genetic bone disorder that results in low bone mass, increased fragility of the bones, and other connective tissue problems such as joint hypermobility, resulting in instability of the joints.
All of these contribute to fracture occurrence. Dentin- ogenesis imperfecta may also occur. This is character- ized by the tooth enamel wearing easily and brittle and discolored teeth.
Nursing Assessment
The deformity is usually noted at birth. Note inward deviation of the forefoot. The great and second toes might be separated. Determine forefoot lexibility. Range of motion of the ankle, hindfoot, and midfoot is normal in all three types. Accompanying hip dysplasia may be seen; therefore, careful examination of the hips is war- ranted (Wells & Sehgal, 2011).
Nursing Management
Nursing care for children with type I and II metatarsus adductus is aimed at education and reassurance of the parents. Nursing care for the child with type III metatar- sus adductus is similar to that of the child with clubfoot (see below).
Congenital Clubfoot
Congenital clubfoot (also termed congenital talipes equinovarus) is a congenital anomaly that occurs in 1 of 1,000 live births (Hosalkar, Spiegel, et al., 2011). Clubfoot consists of:
• Talipes varus (inversion of the heel)
• Talipes equinus (plantarlexion of the foot; the heel is raised and would not strike the ground in a standing position)
• Cavus (plantarlexion of the forefoot on the hindfoot)
• Forefoot adduction with supination (the forefoot is in- verted and turned slightly upward)
The foot resembles the head of a golf club (Fig.
45.13). Half of all cases occur bilaterally (Hosalkar, Spie- gel, et al., 2011). Males are affected more frequently than females (Gunta, 2009; Hosalkar, Spiegel, et al., 2011).
The exact etiology of clubfoot is unknown.
FIGURE 45.13 Note inverted heel, ankle equinus, and fore- foot adduction in this infant with bilateral clubfoot.
Take Note!
Blue sclera is not diagnostic of osteogenesis imper- fecta, but it is a common inding (Gunta, 2009).
However, there are some individuals with blue sclerae who do not have osteogenesis imperfecta. Keep in mind that the sclerae of newborns tend to be bluish, progressing to white over the irst few weeks of life.
Therapeutic Management
The goal of medical and surgical management is to decrease the incidence of fractures and maintain mobil- ity. Bisphosphonate administration is used for moderate The disorder usually occurs as a result of a defect in
the collagen type 1 gene, usually through an autosomal dominant inheritance pattern but some types are inher- ited in a recessive manner (Gunta, 2009). The types of osteogenesis imperfecta range from mild to severe con- nective tissue and bone involvement (Table 45.2). Sub- types A and B exist depending on (A) the absence or (B) the presence of dentinogenesis imperfecta (Marini, 2011). In children with moderate to severe disease, frac- tures are more likely to occur, and short stature is com- mon. In addition to multiple fractures, additional com- plications include early hearing loss, acute and chronic pain, scoliosis, and respiratory problems.
TABLE 45.2 CLASSIFICATION OF OSTEOGENESIS IMPERFECTA Classification Characteristics
I Mild
Accounts for 50% of OI casesa Blue sclera
Hearing loss
Frequent shoulder and elbow dislocations Recurrent fractures in childhood
After growth is complete incidence of fractures diminishes dramatically.
Average or slightly shorter stature compared to family members Gross motor development delays
II Most severe form
Lethal in perinatal period or die within irst year of life Low birthweight, very short limbs, small chest, and soft skull Intrauterine fractures evident
Very dark blue/gray sclera
III Most severe nonlethal form
Sclera ranges from white to blue
Fractures in utero and at birth with progressive deformity Bone fragility and fracture rate vary
Results in signiicant disability Marked short stature
IV Moderately severe
Sclera may be light blue in infancy and lighten to white during childhood Fragile bones
May present at birth with in utero fractures or bowing of lower long bones Height may be less than average for age
V and VI Clinically within type IV but microscopic studies reveal distinct bone patterns; do not involve deicits of type I collagen
Moderate in severity
Similar to type IV in degree of fractures and skeletal deformity Type VI is extremely rare
VII and VIII Recessive inheritance patterns
Type VII resembles type IV or III, except infants have white sclera: stature is short.
Type VIII resembles type II or III, except for white sclera; growth deiciency is severe.
aOsteogenesis Imperfecta Foundation. (2007). Types of OI. Retrieved July 12, 2012, from http://www.oif.org/site/
PageServer?pagename=AOI_Types
Adapted from Marini, J. C. (2011). Chapter 692: Osteogenesis imperfecta. In R. M. Kliegman, B. F. Stanton, J. W. St. Geme, N. F. Schor, & R. E. Behrman, (Eds.), Nelson’s textbook of pediatrics (19th ed., p. 2437–40). Philadelphia: Saunders.
bone and muscle mass. If the child is ambulatory, even with adaptive equipment use, walking is a good form of exercise. Swimming and water therapy are appropriate, allowing independent movement with little fracture risk.
Take Note!
Use caution when inserting an intravenous line or taking a blood pressure measurement, as pressure on the arm or leg can lead to bruising and fractures.
Developmental Dysplasia of the Hip
Developmental dysplasia of the hip (DDH) refers to abnormalities of the developing hip that include disloca- tion, subluxation, and dysplasia of the hip joint. In DDH, the femoral head has an abnormal relationship to the acetabulum. Frank dislocation of the hip may occur, in which there is no contact between the femoral head and acetabulum. Subluxation is a partial dislocation, meaning that the acetabulum is not fully seated within the hip joint.
Dysplasia refers to an acetabulum that is shallow or slop- ing instead of cup shaped. DDH may affect just one or both hips. The dysplastic hip may be provoked to sublux- ation or dislocated and then reduced again (Fig. 45.14).
Pathophysiology
While dislocation may occur during a growth period in utero, the laxity of the newborn’s hip allows dislocation and relocation of the hip to occur. The hip can develop normally only if the femoral head is appropriately and deeply seated within the acetabulum. If subluxation and periodic or continued dislocation occur, then structural changes in the hip’s anatomy occur. Continued dysplasia of the hip leads to limited abduction of the hip and con- tracture of muscles. DDH is more common in females, probably due to the greater susceptibility of the female to severe disease. Fracture care is often required. Physi-
cal therapy and occupational therapy prevent contrac- tures and maximize mobility. Standing with bracing is encouraged. Lightweight splints or braces may allow the child to bear weight earlier. Severe cases may require surgical insertion of rods into the long bones.
Nursing Assessment
Elicit a health history, which may reveal a family his- tory of osteogenesis imperfecta, a pattern of frequent fractures, or screaming associated with routine care and handling of the newborn. Inspect the eyes for sclerae that have a blue, purple, or gray tint. Note abnormalities of the primary teeth. Inspect skin for bruising and note joint hypermobility with active range of motion. Labo- ratory tests may include a skin biopsy (which reveals abnormalities in type 1 collagen) or DNA testing (locat- ing the genetic mutation).
Nursing Management
Handle the child carefully and teach the family to avoid trauma (Teaching Guidelines 45.3). Refer families to the Osteogenesis Imperfecta Foundation (a link to which can be found on ), which provides access to multiple resources as well as clinical trials. An excellent book for families of children with osteogenesis imper- fecta is Children With OI: Strategies to Enhance Perfor- mance by H. L. Cintas and L. H. Gerber.
Encourage safe mobility. Reinforce physical and occupational therapists’ recommendations for promotion of ine motor skills and independence in activities of daily living, as well as use of adaptive equipment and appropriate promotion of mobility. Adapted physical
education is important to promote mobility and maintain FIGURE 45.14 Developmental dysplasia of the hip.
Teaching Guidelines 45.3
PREVENTING INJURY IN CHILDREN WITH OSTEOGENESIS IMPERFECTA
• Never push or pull on an arm or leg.
• Do not bend an arm or leg into an awkward position.
• Lift a baby by placing one hand under the legs and buttocks and one hand under the shoulders, head, and neck.
• Do not lift a baby’s legs by the ankles to change the diaper.
• Do not lift a baby or small child from under the arm- pits.
• Provide supported positioning.
• If fracture is suspected, handle the limb minimally.