Skeletal dysplasias

This review is intended to help the neonatologist who is asked to see a baby or speak to parents who are expecting a baby with signs of a generalised disturbance of bone growth and/or modelling. In this review, we will: define a skeletal dysplasia; discuss the presenting features of a skeletal dysplasia in pregnancy and the newborn period; suggest a clinical approach to find the correct diagnosis; discuss the management of the neonate with a skeletal dysplasia; summarise the clinical features of the most common dysplasias; outline some pitfalls and difficulties in counselling the parents of the baby; and give information on further sources of information about skeletal dysplasias.