1. Shortening of the involved bones affects specific portions of the growing bone (Figure 3-1); hence the term dwarfism. Most forms of dwarfism are related to gene defects (single or multiple genes; Table 3-1).

1. Short-trunk variety (e.g., Kniest syndrome–spondyloepiphyseal)

2. Short-limb variety (e.g., achondroplasia, diastrophic dysplasia)

1. Achondroplasia is the most common form of disproportionate dwarfism.

2. Autosomal dominant condition; 80% of cases caused by a spontaneous mutation in the fibroblast growth factor receptor 3 (FGFR3)

3. This disproportionate, short-limbed form of dwarfism is caused by abnormal endochondral bone formation that is more affected than appositional growth.

4. Anatomically, achondroplasia is categorized as a physeal dysplasia.

5. Caused by failure in the cartilaginous proliferative zone of the physis. Achondroplasia is a quantitative, not a qualitative, cartilage defect.

6. It may be associated with advanced paternal age.

1. Normal trunk and short limbs (rhizomelic) with hypotonia

2. Frontal bossing, button noses, small nasal bridges, trident hands (inability to approximate extended middle and ring fingers) (Figure 3-2).

3. Thoracolumbar kyphosis (which usually resolves around the age at ambulation)

4. Lumbar stenosis (most likely to cause disability) and excessive lordosis (short pedicles with decreased interpedicular distances)

5. Radial head subluxation

6. Normal intelligence but delayed motor milestones

7. Although sitting height may be normal, standing height is below the third percentile.

8. Radiographic findings

1. Lumbar stenosis: decompression and fusion of the spine for a developing neurologic deficit (usually in children older than age 10)

2. Foramen magnum stenosis: decompression

3. Progressive kyphosis: if fail bracing, anterior and posterior fusion are indicated for residual kyphosis greater than 60 degrees by age 5 years.

4. Genu varum: Tibial osteotomies or hemiepiphysiodesis

5. Limb lengthening through callodiastasis (lengthening through a metaphyseal corticotomy) have been well described, with a high rate of complications.

1. Genetics: The inheritance pattern is autosomal dominant with a defect on chromosome 19 within the cartilage oligometric matrix protein (COMP).

2. Signs and symptoms:

3. Radiographic findings: metaphyseal flaring and delayed epiphyseal ossification

1. Must be differentiated from multiple epiphyseal dysplasia (MED)

2. MED and spondyloepiphyseal dysplasia involve abnormal epiphyseal development in the upper and lower extremities.

3. The distinguishing feature of spondyloepiphyseal dysplasia is the added typical spine involvement.

4. Retinal detachment and respiratory problems are common.

1. Genetic defect is within the gene encoding type II collagen.

1. Characterized by multiple punctate calcifications seen on radiographs during infancy

2. The autosomal dominant form (Conradi-Hünermann) has a wide variation of clinical expression.

3. Autosomal recessive, rhizomelic form is usually fatal during the first year of life.

1. Autosomal dominant; short-trunked, disproportionate dwarfism with joint stiffness/contractures, scoliosis, kyphosis, dumbbell-shaped femora, and hypoplastic pelvis and spine

2. Otitis media and hearing loss are frequent.

1. Defect within type II collagen

1. Osteopenia and dumbbell-shaped bones

1. Early therapy for joint contractures is required. Reconstructive procedures may be required for early hip degenerative arthritis.

1. Heterogeneous group of disorders characterized by metaphyseal changes of tubular bones with normal epiphyses

1. The defect appears to be in the proliferative and hypertrophic zones of the physis.

1. Jansen (rare): most severe form

2. Schmid type

3. McKusick type

1. Short-limbed, disproportionate dwarfism that often is not manifested until between the ages of 5 and 14. It must be differentiated from spondyloepiphyseal dysplasia. A mild form (Ribbing) and a more severe form (Fairbanks) exist.

1. Most common gene mutation is in COMP.

1. MED is characterized by irregular, delayed ossification at multiple epiphyses (Figure 3-3).

2. Short, stunted metacarpals and metatarsals, irregular proximal femora, abnormal ossification (tibial “slant sign” and flattened femoral condyles, patella with double layer), valgus knees (early osteotomy should be considered), waddling gait, and early hip arthritis are common.

3. The proximal femoral involvement can be confused with Perthes disease.

1. Obtain bone survey to differentiate between MED and single epiphyseal dysplasia, as well as to identify all areas of involvement.

2. Treat limb alignment and perform early joint replacement.

1. An epiphyseal osteochondroma

2. Most commonly seen at the knee and ankle

3. Usually affects only one joint

1. Calcifications are seen within the joint.

1. Excision of the prominent overgrowth (if symptomatic) and later osteotomies may be required.

2. Recurrence is a common complication.

1. Autosomal dominant inheritance.

2. Affected children are often “late walkers” (because of associated muscle weakness), with symmetric cortical thickening of long bones.

3. The tibia, femur, and humerus are most often involved (in that order), affecting only the diaphyseal portion of bone.

4. Watch for leg-length inequality.

1. Widened, fusiform diaphyses with increased bone formation and sclerosis

1. Salicylates, nonsteroidal anti-inflammatory drugs (NSAIDs), and steroids for refractory cases

1. In contrast to the aforementioned conditions, these forms of dwarfism are easily differentiated on the basis of the presence of complex sugars in the urine.

2. The accumulation of mucopolysaccharides, as a result of a hydrolase enzyme deficiency, produces a proportionate dwarfism.

1. Morquio syndrome (autosomal recessive)

2. Hurler syndrome (autosomal recessive inheritance)

3. Hunter syndrome (sex-linked recessive inheritance)

4. Sanfilippo syndrome (autosomal recessive inheritance)

1. Autosomal recessive inheritance; severe, short-limbed dwarfism

2. Cleft palate (59% of cases)

3. Severe joint contractures (especially hip and knee)

4. Cauliflower ears (80% of cases), hitchhiker’s thumb

5. Rigid clubfeet

1. Deficiency in sulfate transport protein

1. Spine radiographs reveal cervical kyphosis (often severe, necessitating immediate treatment), thoracolumbar kyphoscoliosis (83% of cases), spina bifida occulta, and atlantoaxial instability.

1. Quadriplegia is a major concern with deformities of the cervical spine.

2. Surgical release of clubfoot deformities

3. Osteotomies for contractures

4. Spinal fusion often required

1. Autosomal dominant inheritance

2. Proportionate dwarfism that affects bones formed by intramembranous ossification (clavicles, cranium, pelvis)

1. Defect in transcription factor for osteocalcin (CBFA1)

1. Hypoplasia or aplasia of the clavicle (no intervention necessary) (Figure 3-4)

2. Delayed closure of skull sutures

3. Frontal bossing

4. Coxa vara

5. Delayed ossification of the pubis

6. Wormian-type bone

1. Consider intertrochanteric valgus osteotomy if neck-shaft angle is less than 100 degrees.

1. Usually characterized by ligamentous laxity, hypotonia, mental retardation, heart disease with atrial septal defect (50% of cases), endocrine disorders (hypothyroidism and diabetes), and premature aging

2. Orthopaedic problems include metatarsus primus varus, pes planus, spinal abnormalities (atlantoaxial instability [Figure 3-5], scoliosis [50% of cases], spondylolisthesis [6% of cases]), hip instability (open reduction with or without osteotomy is usually required), slipped capital femoral epiphysis (SCFE) (hypothyroidism should be sought), patellar dislocation, and symptomatic planovalgus feet.

3. Atlantoaxial instability may be subtle but commonly manifests as a loss or change in motor milestones.

1. Trisomy 21 is the most common chromosomal abnormality; its incidence increases with maternal age.

2. Chromosome 21 is the location of genes that encode for type VI collagen (COL6A1 and COL6A2).

1. Lower extremity radiographs are needed to evaluate for patella dislocations and genu valgum.

2. Anteroposterior and frog-leg pelvic views to evaluate for SCFE

3. Flexion-extension radiographs of the cervical spine to evaluate atlantoaxial instability

1. Screening for cervical spine instability:

2. Children with asymptomatic instability should avoid contact sports, diving, and gymnastics.

3. Children with symptomatic instability often require surgery, but the rate of wound healing problems and infection is high.

1. Affected patients are female and have short stature, lack of sexual development, webbed neck, and cubitus valgus.

2. Idiopathic scoliosis is common. Growth hormone therapy can exacerbate scoliosis.

3. Malignant hyperthermia is common with anesthetic use.

4. Must be differentiated from Noonan syndrome (same appearance except for normal gonadal development, mental retardation, and more severe scoliosis)

1. 45,XO Genotype

1. Genu valgum and shortening of the fourth and fifth metacarpals, which usually necessitate no treatment

1. Monitor for osteoporosis.

1. Floppy, hypotonic infant who grows up to be an intellectually impaired, obese adult with an insatiable appetite

2. Growth retardation

3. Hypoplastic genitalia

1. Partial chromosome 15 deletion (missing portion from father)

1. Hip dysplasia and juvenile-onset scoliosis

1. Characteristic “kinky” hair

2. May be differentiated from occipital horn syndrome (which also affects copper transport) in that the latter is characterized by bony projections from the occiput of the skull

1. Sex-linked recessive disorder of copper transport

1. Skull (wormian bones), long bones (metaphysial spurring), and ribs (anterior flaring and multiple fractures)

1. Progressive impairment and stereotaxic, abnormal hand movements (like those in autism)

2. Manifests in girls at 6 to 18 months of age

3. Loss of developmental milestones that is rapid and then stabilizes

1. Family of deletion mutations of the X-linked gene encoding a protein called methyl-CpG-binding protein 2 (MECP2)

1. Scoliosis with a C-shaped curve that is unresponsive to bracing

1. Spinal instrumentation must include all of the kyphosis and the scoliosis.

2. Spasticity results in joint contractures, which are treated as they are in cerebral palsy.

1. Organomegaly, omphalocele, and a large tongue

2. Orthopaedic manifestations include hemihypertrophy with spastic cerebral palsy.

3. There is a predisposition to Wilms tumor (patient must be screened regularly with kidney ultrasonography).

1. Spasticity is thought to be the result of infantile hypoglycemic episodes secondary to pancreatic islet cell hypertrophy.

1. Growth arrest may be necessary in large limb.

1. Osteopenia

2. Bone pain (Gaucher crisis), and bleeding abnormalities

3. Hepatosplenomegaly (characteristic finding)

4. Types

1. Aberrant autosomal recessive, lysosomal storage disease characterized by accumulation of cerebroside in cells of the reticuloendothelial system. The cause is a deficiency of the enzyme β-glucocerebrosidase.

1. Metaphyseal enlargement (failure of remodeling), femoral head necrosis (may be confused with Perthes disease or MED), “moth-eaten” trabeculae, patchy sclerosis, and Erlenmeyer flask deformity of the distal femora (70% of cases)

1. Treatment is supportive; new enzyme therapy is available but is extremely expensive.

1. Sickle cell disease (affects 1% of African Americans) is more severe but less common than sickle cell trait (8% prevalence).

2. Bone infarction is more common than acute osteomyelitis in children with sickle cell disease who present with acute musculoskeletal pain.

3. Salmonella infection is more commonly seen in children with sickle cell disease. Despite this tendency, Staphylococcus aureus infection is still the most common cause of osteomyelitis in affected patients.

4. Dactylitis (acute hand/foot swelling) is also common.

1. Mutation in the β-globin gene, resulting in sickle hemoglobin (HbS) production. When the cell becomes deoxygenated, HbS molecules assemble into fibers that produce a sickle-shaped red blood cell.

2. Crises usually begin at ages 2 to 3 years, are caused by substance P, and may lead to characteristic bone infarctions.

1. Growth retardation or skeletal immaturity, osteonecrosis of femoral and humeral heads, osteomyelitis (often in diaphysis), biconcave “fish” vertebrae, acetabular protrusio, and septic arthritis are common in this disorder.

2. Differentiating bone infarction and osteomyelitis:

1. Aspiration and culture may be necessary to differentiate infarction from osteomyelitis.

2. Preoperative oxygenation and exchange transfusion are helpful for affected patients requiring surgery. Hydroxyurea has produced dramatic relief of pain when used for bone crises.

1. Hemarthrosis manifests with painful swelling and decreased range of motion (ROM) of affected joints.

2. The knee is the joint most commonly affected.

3. Deep intramuscular bleeding is also common and can lead to the formation of a pseudotumor (blood cyst), which can occur in soft tissue or bone.

1. X-linked recessive disorder with decreased amounts of factor VIII (hemophilia A), abnormal factor VIII with platelet dysfunction (von Willebrand disease), or decreased amounts of factor IX (hemophilia B, Leyden, or Christmas disease)

2. Can be mild (5% to 25% of normal amounts of factor present), moderate (1% to 5% available), or severe (<1% present)

1. Squaring of the patellae and condyles, epiphyseal overgrowth with leg-length discrepancy

2. Generalized osteopenia with resulting fractures

3. Cartilage atrophy, resulting from enzymatic matrix degeneration and chondrocyte death, is frequent.

1. Acute treatment of hemarthrosis is crucial and should begin immediately with administration of factor VIII or factor IX. Administration should continue for 3 to 7 days after cessation of bleeding and should be followed by physical therapy.

2. Home transfusion therapy has reduced the severity of the arthropathy with the advantage of immediate treatment when bleeding occurs.

3. Aspiration of a hemarthrosis is controversial.

4. Treatment of the sequelae

5. Factor VIII levels should be increased for prophylaxis in the following situations: vigorous physical therapy (20% of patients), treatment of hematoma (30%), acute hemarthrosis or soft tissue surgery (>50%), and skeletal surgery (approaching 100% preoperatively and maintained at >50% for 10 days postoperatively).

6. Immunoglobulin G (IgG) antibody inhibitors are present in 4% to 20% of hemophiliac patients; their presence is a relative contraindication to surgery.

7. Because of the amount of blood component therapy needed to treat this disorder, a large percentage of older hemophiliac patients are seropositive for human immunodeficiency virus (HIV).

1. The most common malignancy of childhood. Acute lymphocytic leukemia represents 80% of cases of leukemia.

2. Incidence peaks at 4 years of age.

3. One fourth to one third of affected children have musculoskeletal complaints (back, pelvic, leg pains).

1. Bony changes include demineralization of bones, periostitis, and occasionally lytic lesions. Radiolucent “leukemia” lines may be seen in the metaphyses of affected bones in older affected children.

1. Management of leukemia includes chemotherapy, which may predispose the patient to pathologic fractures.

1. Short stature

2. Limb angulation (usually varus)

3. Bone pain

1. Deficiency of calcium (and sometimes phosphorus), affecting mineralization at the epiphyses of long bones

2. Histologic findings: Widened osteoid seams and “Swiss cheese” trabeculae are characteristic in bone.

3. Growth plate abnormalities include enlarged and distorted maturation zone (zone of hypertrophy) and a poorly defined zone of provisional calcification.

1. Classical findings in this disorder include brittle bones with physeal cupping/widening, bowing of long bones, transverse radiolucent Looser lines, ligamentous laxity, flattening of the skull, enlargement of costal cartilages (rachitic rosary), and dorsal kyphosis (cat back) (Figure 3-6).

1. Several varieties of rickets are based on the underlying abnormality (e.g., gastrointestinal, kidney, diet, and organ); they are discussed in detail in Chapter 1, Basic Sciences.

1. Bone fragility (brittle “wormian” bone), short stature

2. Scoliosis

3. Tooth defects (dentinogenesis imperfecta)

4. Hearing defects

5. Blue sclerae in types I and II

6. Ligamentous laxity

7. Basilar invagination is common in more severe clinical phenotypes.

8. Fractures are common:

1. Defect in type I collagen (COL1A2 gene) that causes abnormal cross-linking and leads to decreased collagen secretion

2. Histologic findings: increased diameters of haversian canals and osteocyte lacunae, increased numbers of cells, and replicated cement lines, which result in the thin cortices seen on radiographs

3. Classification

1. Thin cortices and generalized osteopenia

1. Fracture management and long-term rehabilitation

2. Bracing of extremities early to prevent deformity and minimize fractures

3. Sofield osteotomies—“shish kebab” multiple long-bone osteotomies with either fixed-length Rush rods or telescoping (Bailey-Dubow or Fassier-Duval) intramedullary rods—are sometimes required for progressive bowing of long bones.

4. Fractures in children younger than 2 years are treated similarly to those in children without osteogenesis imperfecta. After age 2, telescoping intramedullary rods can be considered.

5. Bisphosphonates have been shown to decrease the number of fractures in these patients.

6. Scoliosis is common, and bracing is ineffective treatment. Surgery is necessary for scoliosis deformities exceeding 50 degrees, and a large blood loss is to be expected.

1. Rare, self-limiting disorder that appears between the ages of 8 and 14 years with osteopenia, growth arrest, and bone and joint pain.

2. This disorder must be differentiated from other causes of osteopenia (e.g., osteogenesis imperfecta, malignancy, Cushing disease).

1. Serum calcium and phosphorus levels are normal.

1. Possible multiple vertebral body microfractures

1. Bracing for vertebral body fractures

2. Typically, this disorder resolves spontaneously 2 to 4 years after the onset of puberty.

1. Bone pain

2. Loss of the medullary canal can cause anemias and encroachment on the optic and oculomotor nerves, which in turn causes blindness.

1. Failure of osteoclastic resorption, probably secondary to a defect in the thymus, leading to dense bone (so-called “marble” bone)

2. The mild form is autosomal dominant; the “malignant” form is autosomal recessive.

1. “Rugger jersey” spine (Figure 3-7)

2. Marble bone

3. Erlenmeyer flask deformity of the proximal humerus and distal femur

1. Healing is normal, but amount of time for healing may be prolonged.

2. Bone marrow transplantation may be helpful for treating the malignant form (see Chapter 1, “Basic Sciences”).

1. Soft tissue swelling and bony cortical thickening (especially the jaw and ulna) that follow a febrile illness in infants 0 to 9 months old.

2. This disorder may be differentiated from trauma (and child abuse) on the basis of single-bone involvement.

3. Infection, scurvy, tumor, and progressive diaphyseal dysplasia may be included in the differential diagnosis.

1. Characteristic periosteal reaction

1. The condition is benign and self-limiting.

1. Arachnodactyly (long, slender fingers; “peeking thumb sign”), pectus deformities, scoliosis (50% of cases), acetabular protrusio (15% to 25%), cardiac abnormalities (aortic dilation), and ocular abnormalities (superior lens dislocation in 60%)

2. Dural ectasia and meningocele

3. Joint laxity

1. Defect in fibrillin-1 (FBN1)

2. Autosomal dominant inheritance

1. Scoliosis

2. Acetabular protrusio

1. Joint laxity is treated conservatively.

2. Bracing for scoliosis is ineffective.

3. Curves may necessitate anterior and posterior fusion.

4. Echocardiographic and cardiologic evaluation are required before surgery.

5. Acetabular protrusio should be observed unless the patient has severe symptoms.

1. Hyperextensibility of “cigarette paper” skin

2. Joint hypermobility and dislocation

3. Soft tissue and bone fragility, and soft tissue calcification

4. Classification

1. Autosomal dominant disorder of collagen V (coexpressed with collagen I)

1. Dislocations may be shown.

2. Kyphoscoliosis may be found.

1. Physical therapy, orthoses, and arthrodesis when soft tissue procedures fail

1. Osteoporosis, a marfanoid-like habitus (but with stiffening joints)

2. Inferior lens dislocation

3. Differentiated from Marfan syndrome on the basis of the direction of lens dislocation and the presence of osteoporosis in homocystinuria

4. Central nervous system effects, including mental retardation, are common in this disorder.

1. Autosomal recessive inborn error of methionine metabolism (decreased enzyme cystathionine β-synthase). Accumulation of the intermediate metabolite homocysteine in the production of the amino acid cysteine.

2. The diagnosis is made by demonstrating increased homocysteine in urine (cyanide-nitroprusside test).

1. Early treatment with vitamin B₆ and a diet with decreased amounts of methionine are often successful.

1. Persistent noninfectious arthritis lasting 6 weeks to 3 months and diagnosed after other possible causes have been ruled out

2. Affects girls more than boys and typically manifests before age 4 years

3. Commonly involves the knee, wrist (flexed and ulnar deviated) and hand (fingers extended, swollen, radially deviated)

4. To confirm the diagnosis, one of the following must be present: rash, presence of rheumatoid factor, iridocyclitis, cervical spine involvement, pericarditis, tenosynovitis, intermittent fever, or morning stiffness.

5. In 50% of affected patients, symptoms resolve without sequelae; 25% of patients are slightly disabled, and 20% to 25% have crippling arthritis, blindness, or both.

1. Cervical spine involvement can lead to kyphosis, facet ankylosis, and atlantoaxial subluxation.

2. Lower extremity problems include flexion contractures (hip and knee flexed, ankle dorsiflexed), subluxation, and other deformities (hip protrusio, valgus knees, equinovarus feet).

1. Medical therapy involves less high-dose steroids and salicylates and more specific immunomodulating drugs (infliximab).

2. Surgical interventions include joint injections and (rarely) synovectomy (for chronic swelling refractory to medical management). Arthrodesis and arthroplasty may be required for severe juvenile idiopathic arthritis.

3. Slit-lamp examination is required twice yearly, as progressive iridocyclitis can lead to rapid loss of vision if left untreated.

1. Typically affects adolescent boys with asymmetric, lower extremity, large-joint arthritis; heel pain; and sometimes eye symptoms

2. Hip and back pain (cardinal symptoms) may develop later.

3. Limitation of chest wall expansion is a more specific finding than is a positive HLA-B27 test result.

1. The HLA-B27 test yields positive results in 90% to 95% of patients with ankylosing spondylitis or Reiter syndrome, but the result is also positive in 4% to 8% of all white Americans; thus, its usefulness as a screening tool is limited.

1. Bilateral, symmetric sacroiliac erosion, followed by joint space narrowing, subsequent ankylosis, and late vertebral scalloping (bamboo spine)

1. NSAIDs and physical therapy

1. In 2 per 1000 births, an injury is still associated with stretching or contusion of the brachial plexus.

2. Typically present with internal rotation contracture of the shoulder and with elbow and wrist flexion contractures.

3. Hand function is variable, according to level of brachial plexus deformity.

4. Three types are commonly recognized (Table 3-5).

1. Large size of neonate, shoulder dystocia, forceps delivery, breech position, and prolonged labor

1. Investigations have focused on the position of the humeral head within the glenoid.

2. Axillary lateral view of the shoulder should be obtained to evaluate position of humeral head.

3. Consider computed tomographic (CT) scanning instead of MRI of the shoulder if surgical reconstruction is planned.

1. The key to the success of therapy is maintaining passive ROM and awaiting return of motor function (up to 18 months).

2. More than 90% of cases eventually resolve without intervention.

3. Options include releasing contractures (Fairbanks), latissimus and teres major transfer to the shoulder external rotators (L’Episcopo), tendon transfers for elbow flexion (Clark pectoral transfer and Steindler flexorplasty), proximal humerus rotational osteotomy (Wickstrom), and microsurgical nerve grafting.

4. Release of the subscapularis tendon for internal rotation contracture, if performed by age 2 years, may result in improved active external rotation of the shoulder, with muscle transfer to assist in active external rotation.

1. It is associated with other “molding disorders,” such as hip dysplasia and metatarsus adductus (up to 20% association with hip dysplasia).

2. Fibrosis of the muscle and a palpable mass are noted within the first 4 weeks of life.

3. This is a diagnosis of exclusion, inasmuch as other causes for the torticollis must be evaluated:

1. A congenital deformity resulting from contracture of the sternocleidomastoid muscle, perhaps from an intrauterine compartment syndrome involving this muscle.

1. Anteroposterior and lateral views of the cervical spine are needed.

2. Ultrasonography has been shown to differentiate between mild fibrosis of the sternocleidomastoid muscle and severe fibrosis.

1. Most patients (90%) respond to passive stretching within the first year of life.

2. Surgery (Z-plasty of the sternocleidomastoid muscle) may be required if torticollis persists beyond the first year.

1. Failure of union of the medial and lateral ossification centers of the right clavicle

2. Manifests as an enlarging, painless, nontender mass

1. May be related to pulsations of the underlying subclavian artery

1. Anteroposterior view of the clavicle reveals rounded sclerotic bone at the pseudarthrosis site.

1. Surgery (open reduction, internal fixation with bone grafting) is indicated for unacceptable cosmetic deformities or with significant functional symptoms (mobility of the fragments and winging of the scapula) at ages 3 to 6 years.

2. Successful union is predictable (in contrast to congenital pseudarthrosis of the tibia).

1. Persistent spasticity can lead to contractures, bony deformity, and ultimately joint subluxation/dislocation.

1. Spastic

2. Athetosis

3. Ataxia

4. Mixed

1. Hemiplegia

2. Diplegia

3. Total involvement (quadriplegia)

1. Gross motor and functional classification system (GMFCS) (Figure 3-9)

1. Based on examination and thorough birth and developmental history

2. A patient’s locomotor profile is based on the persistence of primitive reflexes; the presence of two or more usually means the child will not be able to ambulate.

1. Intramuscular botulinum A toxin can temporarily decrease dynamic spasticity.

2. The mechanism of action of botulinum toxin is a presynaptic blockade at the neuromuscular junction.

3. The effectiveness of botulinum toxin is limited to 6 months; therefore, it is not a permanent cure for spasticity.

4. It is used to maintain joint motion during rapid growth when a child is too young for surgery.

1. Selective dorsal root rhizotomy is a neurosurgical procedure designed to decrease lower extremity spasticity.

2. The procedure includes resection of dorsal rootlets that do not exhibit a myographic or clinical response to stimulation.

3. It is performed primarily in ambulatory patients with spastic diplegia to help reduce spasticity and complement orthopaedic management.

4. It requires multilevel laminoplasty, which may lead to late spinal instability and deformity.

1. Oral baclofen is used as adjunct therapy to control overall tone.

1. Surgical implantation of a pump that provides only local delivery of baclofen to an area of the spinal cord

2. No systemic delivery; thus, less somnolence

3. May exacerbate scoliosis progression

4. Wound problems common in thin children

1. Findings are usually the impetus for the orthopaedic consultation.

2. In many hemiplegic patients, toe walking is the only manifestation.

3. Three-dimensional computerized gait analysis with dynamic electromyography and force-plate studies have allowed a more scientific approach to preoperative decision making and postoperative analysis of the results of surgery for cerebral palsy.

1. Lengthening of continuously active muscles and transfer of muscles out of phase are often helpful. Surgeries should usually be done at multiple levels to best correct the problem. In general, surgery is performed at ages 4 to 5 years. A few generalized guidelines are given in Table 3-6.

1. These disorders most commonly involve scoliosis, which can be severe, making proper wheelchair sitting difficult.

2. The risk for scoliosis is highest in children with total body involvement (spastic quadriplegic).

3. Surgical indications include curves greater than 45 to 50 degrees, worsening pelvic obliquity, or wheelchair seating problems.

4. Curves are classified in two groups (Figure 3-10):

1. Treatment is tailored to the needs of the patient and must involve all caregivers.

2. Small curves with no loss of function or large curves in severely involved patients may necessitate only observation.

3. Group I curves in ambulatory patients are treated as idiopathic scoliosis with posterior fusion and instrumentation. Group I curves in sitting patients and group II curves may necessitate posterior fusion with segmental posterior instrumentation from the upper thoracic spine to the pelvis (Luque-Galveston technique), with or without anterior fusion.

4. Kyphosis is also common and may necessitate fusion and instrumentation.

5. It is important to assess nutritional status (albumin < 3.5 g/dL and white blood cell [WBC] count < 1500/µL) preoperatively and to consider gastrostomy tube placement before spinal surgery if indicated.

1. In many children, pathologic processes of the hip are asymptomatic.

2. Caregivers may describe a pain response.

3. Difficulty with abduction for peroneal care is the most common problem.

1. Initial treatment is with a soft tissue release (adductor/psoas) plus abduction bracing.

2. Later, hip subluxation or dislocation may necessitate femoral or acetabular osteotomies (Dega), or both, to maintain hip stability.

3. The goal is to keep the hip reduced.

4. This entity is characterized by four stages:

1. Usually includes hamstring contractures and decreased ROM

2. Crouch gait in spastic diplegia patients

1. Hamstring lengthening is often helpful (sometimes increases lumbar lordosis).

2. Distal transfer of an out-of-phase rectus femoris muscle to the semitendinosus or gracilis muscle is indicated when there is loss of knee flexion during the swing phase of gait.

1. Most common in spastic diplegia

2. Causes

3. Treatment

1. Most common in spastic hemiplegia

2. Causes

3. Treatment

1. Evaluation

2. Treatment

1. Evaluation

2. Treatment

1. Evaluation

2. Treatment

1. Evaluation

2. Treatment

1. Causes

2. Classification:

1. Diagnosis

2. Central axis

3. Fractures

1. Careful observation of patients with myelodysplasia is important. Several myelodysplasia “milestones” have been developed to assess progress (Table 3-8).

2. Treatment involves a team approach (urologist, orthopaedist, neurosurgeon, and developmental pediatrician) to allow maximal function consistent with the patient’s level and other abnormalities.

3. Proper use of orthoses is essential in patients with myelodysplasia. The determination of ambulation potential is based on the level of the deficit and motivation of the child.

4. Surgery for myelodysplasia focuses on balancing of muscles and correction of deformities.

5. Increased attention has been focused on latex sensitivity in myelodysplastic patients. A latex-free environment is necessary to prevent life-threatening allergic reactions.

1. A wide spectrum of hip disease occurs, including flexion contractures, hip subluxation and dislocation, developmental dysplasia of the hip (DDH), and abduction or external rotation contracture. In general, management of the hip in patients with myelomeningocele is controversial.

2. Flexion contractures:

3. Hip dislocation

1. Usually include quadriceps weakness (usually treated with knee-ankle-foot orthoses)

2. Flexion deformities are not problematic in patients who use wheelchairs but can be treated with hamstring release and posterior capsular release.

3. Recurvatum is rarely a problem and can be treated early with serial casting and knee-ankle-foot orthoses. Tenotomies (quadriceps lengthening) are sometimes required.

4. Valgus deformities are usually not a problem. Sometimes iliotibial band release, guided growth, or osteotomies are needed.

1. Objectives: (1) for feet to be braceable and plantigrade and (2) muscle balance

2. Calcaneal deformity (see Figure 3-13)

3. Valgus foot and ankle

4. Rigid clubfoot

1. Lumbar kyphosis or other congenital malformation of the spine as a result of a lack of segmentation or formation (i.e., hemivertebrae, diastematomyelia, unsegmented bars).

2. Scoliosis can also occur with severe lordosis as a result of muscular imbalance that is caused by thoracic-level paraplegia.

1. Result of prolonged unilateral hip contractures or scoliosis

2. Treatment

1. These noninflammatory, inherited disorders are characterized by progressive muscle weakness.

2. Treatment focuses on physical therapy, orthoses, genetic counseling, and surgery.

3. Several types of muscular dystrophy are classified on the basis of their inheritance patterns.

1. Causes

2. Physical findings manifested as muscle weakness (proximal groups weaker than distal), clumsy walking, decreased motor skills, lumbar lordosis, calf pseudohypertrophy, a positive Gowers sign (rises by walking the hands up the legs to compensate for gluteus maximus and quadriceps weakness; Figure 3-15). Hip extensors are typically the first muscle group affected.

3. Treatment

4. Differential diagnosis

1. Causes and findings

2. Treated with stabilization by means of scapulothoracic fusion

1. Causes and findings

1. Gowers (distal involvement; high incidence in Sweden); ocular, oculopharyngeal (high incidence among French Canadians)

1. Manifest with a febrile illness that may be acute or insidious

2. Females predominate and typically exhibit photosensitivity and increased creatine phosphokinase and erythrocyte sedimentation rate (ESR) values.

3. Muscles are tender, brawny, and indurated. Biopsy findings demonstrate the pathognomonic inflammatory response.

1. Anti–tumor necrosis factor medication can decrease symptoms and control flares.

1. Causes and findings

2. Treatment

1. Causes and findings

2. Treatment for feet

1. Causes and findings

1. Causes and findings

1. Chronic disease with insidious development of easy muscle fatigability after exercise

2. Caused by competitive inhibition of acetylcholine receptors at the motor end plate by antibodies produced in the thymus gland

1. Causes and findings

1. Causes and findings

2. Scoliosis is treated surgically, like Duchenne muscular dystrophy curves, except that fusion may be required while patient is still ambulatory (may result in loss of ambulatory ability).

1. Symmetric ascending motor paresis caused by demyelination after viral infection

2. Cerebrospinal fluid protein level is typically elevated.

3. Usually self-limiting; better prognosis with the acute form

1. Causes and findings

1. Causes

2. Treatment

1. Causes

2. Treatment