Inspection
General appearance and special features may help to establish a diagnostic entity. Dysmorphic facial features, epicanthal folds, increased intercanthal distance, external ear anomalies, and malformations of the toes or fingers suggest a prenatal disorder, possibly teratogenic or genetic, and at times, an identifiable syndrome (l0).
Blue sclerae are a sign of osteogenesis imperfecta. Asymmetric facial and palpebral fissures and pupils may indicate facial palsy or Horner's syndrome, whereas craniofacial asymmetry and vertical strabismus develop in torticollis. Dolichocephaly is typical in premature infants and children. A bald spot or area of short, thinning hair over the posterior skull is a sign of weak neck muscles, most likely associated with generalized weakness. Extraocular, facial, and tongue muscle weakness may represent cranial nerve dysfunction, myopathy, or other neurologic disease. Involuntary eye movements and nystagmus are noted in cerebellar or other CNS disorders.The skin should be inspected for telangiec- tasias, nevi, or other lesions. Cafe-au-lait spots or pigmented skin areas are seen in neurofibromatosis. In children with ataxia, telangiectasias are usually present over the flexor surface of the knees and elbows. Malar rash suggests a rheumatic disease. Adenomatous rash, seizures, and hemiplegia are present in tuberous sclerosis. Hairy patches, dimples, or other skin lesions over the spine are frequent signs of spina bifida occulta (7). A small sinus, dermal tract, or pylonidal cyst in the gluteal crease also may accompany occult spina bifida. Sudden weakness in such cases may indicate an infection penetrating into the spinal canal or a neurologic complication related to underlying malformation in or around the spinal cord. In children with sensory deficit, the entire area must be routinely examined for skin lesions, pressure abrasions, ulcerations, and infections. Foot deformities, varus or valgus deformity, or claw toes lead to abnormal weight distribution and callus formation consistent with the pathologic posture.
Calluses over the dorsum of the feet and knees, the so-called “housemaid's knee,” develop in older children whose preferred mode of locomotion is crawling. Multiple scars, bruises, and abrasions in various stages of healing may indicate frequent falls or child abuse.Asymmetry in the size of skeletal muscles should be noted in terms of location and distribution. Anterior axillary and upper chest muscle atrophy may represent absent pectoralis muscle or wasting due to an old brachial plexus injury. Congenital clubfeet or multiple joint deformities are manifestations of prenatal muscle weakness due to spina bifida, arthrogryposis, or myotonic dystrophy, or may be idiopathic. A hypertrophic, “muscle-bound” appearance is a sign of myotonic dystrophy. Deformed, fusiform, dimpled joints are seen in arthrogryposis. Lower extremity joint positions reflect the distribution of muscle weakness in newborns with spina bifida. Hypertrophy of the calf muscles is an early sign of Duchenne muscular dystrophy. Hypertrophic musculature of the shoulder girdles and upper extremities is a convincing indication of functional crutch walking or effective wheelchair locomotion. An enlarged limb with bruit detectable by palpation or auscultation may signal an arteriovenous shunt and increased blood flow in the extremity.
Flaring of the ribs, or the so-called bell-shaped chest, suggests ineffective intercostal muscle function in children with motor unit disease or high spinal cord dysfunction. In scoliosis, the thoracic cage is asymmetric.