99 - Congenital Abnormalities of the Upper and Lower Extremities and Spine

Abstract

Congenital abnormalities of the upper and lower extremities and spine are common neonatal problems. These develop during the embryonic period. Those involving the upper extremities are much less common than those involving the lower extremities and spine. Upper extremity malformations include Sprengel deformity of the scapula; proximal radius and ulna synostosis; radial dysplasia and clubhand; constriction bands; congenital amputations and reduction anomalies; and syndactyly, polydactyly, and macrodactyly of the fingers. Congenital spinal deformities are predominantly scoliosis, kyphosis, or sacral agenesis. The common abnormalities of the lower extremities include congenital angular deformities of the tibia and fibula (posteromedial and anterolateral angulation); proximal femoral focal deficiency; subluxation/dislocation of the knee; congenital talipes equinovarus deformities (clubfeet); congenital vertical tali; amputations and reduction anomalies of the lower leg; and syndactyly, polydactyly and macrodactyly of toes. Deformities associated with syndromes include skeletal dysplasias, osteogenesis imperfecta, neurofibromatosis, arthrogryposis multiplex congenita, VACTERL, and others. Most will be recognizable on clinical examination and require radiographic confirmation. Appropriate referrals to specialists are important in their management.