A review of genetics in orthopaedics

A review of disorders with a known genetic basis which occur in orthopaedic practice is presented. Four groups of skeletal dysplasias are briefly described (short-limbed dwarfism, metaphyseal disorders, disorders of increased bone density and the storage diseases). Amongst the multifactorial defects, the aetiological relationship of congenital scoliosis with multiple vertebral anomalies to the neural tube defect is noted, as well as the high proportion of ankylosing spondylitis patients with HL-A27 antigen. A summary of current practice in antenatal diagnosis is given, including modern methods of detecting open neural tube defects by estimating alpha-fetoprotein.