Congenital scoliosis is difficult to recognize at birth unless there is asymmetric movement, a cutaneous lesion (such as aplasia, dimple, dermal sinus tract, flat hemangioma, or hairy tuft), or a lipomatous mass. In the newborn infant, scoliosis is caused by an isolated defect in vertebral body formation or by failure of segmentation. There is little evidence that it is an inherited anomaly, except when it occurs as part of a genetically transmitted syndrome. Because of the cartilaginous nature of much of the spine at birth, only significant anomalies, such as hemivertebrae, can be diagnosed by plain x-ray. Ultrasound is a good alternative for evaluation of suspected cases when magnetic resonance imaging (MRI) is not indicated in the newborn (9,10). For the older infant with significant abnormalities, MRI evaluation is certainly indicated for determination of occult intraspinal pathology, including syringomyelia, diastematomyelia, and tethered cord (11). Spinal orthoses and casting are seldom are of long-term benefit, but these treatment modalities may be used to prolong time to surgery (12). Early referral to a spine specialist is recommended for congenital scoliosis. If a curve is progressive, spinal fusion will be needed and should be done before the curve becomes cosmetically or functionally significant (13). Fusion of a short segment, with or without excision of markedly abnormal bone segments, may be done as early as necessary. Congenital scoliosis is associated with a high incidence of cardiac and related genitourinary anomalies; therefore, the function and anatomy of the cardiovascular and genitourinary systems should be evaluated by MRI and ultrasonic techniques (14).

Congenital kyphosis is a rarer condition that carries a higher risk of progression and the development of neurologic compromise (15). Certain types of deformity require surgical treatment before the age of 5 years (16).

Diagnosis of a myelomeningocele generally poses little problem when there is a skin defect. Because the skin over myelomeningoceles is not always defective, any soft mass in or off the midline must be examined closely to determine its composition. Lipomata always have good skin coverage and tend to be off the midline.

The care of an infant born with myelomeningocele is complex and requires input from several specialties (see Chapter 47,
“Neurosurgery of the Newborn”). It is important to determine immediately after birth the level of involvement by inspection of the back, careful examination of the muscle function of the lower extremities, and radiographic examination before surgical closure.

The most common abnormalities of the lower extremities associated with myelomeningocele are deformations of the feet, indicating lack of normal fetal muscle activity. Initial treatment of the deformed foot is with plaster cast correction, followed, if necessary, by surgical releases and transfer of muscle insertions to maintain the correction. These surgeries may be done at almost any age.

Gentle passive exercising and progressive splinting treat flexion or extension deformities of the knee. New splints need to be made frequently as the deformity improves.

Treatment of a dislocated hip in the patient with myelomeningocele is controversial. There is general agreement that in those children with intact hip musculature, the dislocated hip, as in an otherwise-normal newborn, reduces easily in flexion and abduction. For those lesions below L-2, hip abduction therapy helps in developing a more stable hip. The flexed, abducted, and externally rotated position achieved in a Pavlik harness should not be used when the lesion is above L-2 because this position may lead to development of contractures that prevent the hip from extending and adducting.

Infants with high lumbar or low thoracic myelomeningoceles have very high mortality and morbidity. The degree of disability correlates well with the level of defect, presence and degree of hydrocephalus, and presence of a bony kyphosis.

Supernumerary parts, absence or reduction anomalies of the extremities, and segmentation defects of the limb should offer no problem in diagnosis. These orthopedic anomalies seldom need immediate attention, but they should be seen early by the orthopedist to plan appropriate therapy and discuss prognosis with the family. This is true for anomalies of both the upper and lower extremities.

Syndactylism, or fusion of any portion of two or more digits, is a common anomaly that is transmitted through an autosomal dominant gene with varying expressivity. Surgical treatment should be within the 1st year, with timing dependent on the completeness of the syndactyly and the fingers involved. It is important to determine by radiography if there is a synostosis between fingers because this should be divided by 1 year of age. A delay in surgical separation in synostosis will result in a bowing of the longer finger due to differential growth.

Polydactyly is correctable by surgery, with timing dependent on the extent of duplication. When the duplication does not contain
bone or cartilage, it can be removed in infancy. When there is a question about function, surgical correction should be delayed until the degree of function present in each of the duplicated digits can be ascertained.

Absence of the radius, formerly called radial clubhand, now termed congenital radial longitudinal deficiency is easily recognized (Fig. 48.4). The wrist and hand are deviated 90 degrees or more. Absence of the radius may be bilateral or unilateral, and the thumb may be present, absent, or hypoplastic. The condition is caused by damage to the apical ectoderm or deeper mesenchymal tissue of the limb bud. It is not genetically transmitted in the otherwisen-ormal child, but it is associated with several genetically transmitted syndromes and frequently is accompanied by aplastic anemia. Early treatment by corrective splints may be started, and there are many surgical approaches that should be tailored to each patient by his or her hand surgeon to improve function (17).

Congenital absence of the thumb occurs as an isolated anomaly or may be associated with a radial deficiency. When unilateral, little or no treatment is needed, but when the absence is bilateral, pollicization of the index finger of the dominant hand will improve function. When the thumb is rudimentary and nonfunctional, treatment is controversial.

In the extremities, congenital constriction band (Streeter) syndrome is diagnosed at birth by the presence of defects in the soft tissue underlying the skin (that is usually intact). This entity, possibly more accurately called early amnion rupture sequence, has been
proposed as an etiologic factor in extremity, truncal, and facial abnormalities, including cleft lip/palate (18). In either the upper or lower extremity, a circumferential band can lead to neurovascular compromise of the distal part of the extremity (Fig. 48.5). The presentation is one of a visible constriction or, in more extreme cases, cyanosis or extreme edema in the portion of the extremity distal to the band. Surgical treatment to release the band or amputation in severely compromised extremities may be indicated at a relatively early age (19).