ABSTRACT
Abnormal development of the musculoskeletal system may give rise to a variety of physical defects which are described as skeletal dysplasias (abnormal bone growth and/or modelling), malformations. The single gene disorders have characteristic patterns of inheritance, which may be autosomal or X-linked, and dominant or recessive. With advancing recombinant DNA technology, the genetic disorders are gradually being mapped to specific loci. Many genetic disorders can be diagnosed before birth, thus giving the parents the choice of selective abortion. Fractures, bent bones, exostoses, epiphyseal dysplasia and spinal deformities may be obvious, especially in the older child. The chondro-osteodystrophies, or skeletal dysplasias, are a large group of disorders characterized by abnormal cartilage and bone growth. Management is generally symptomatic, with advice on activity modification, avoiding repetitive loading, physiotherapy and analgesic and anti-inflammatory medication. The most striking clinical features are disproportionate short limbs and characteristic facial features.
