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.
Hurst
Jane A
JA
Oxford Radcliffe Hospitals, Oxford OX3 7LJ, UK. jane.hurst@orh.nhs.uk
Firth
Helen V
HV
Smithson
Sarah
S
D001848:Bone Diseases, Developmental / Q000175:diagnosis*; D003376:Counseling; D003951:Diagnostic Errors; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D010290:Parents / Q000523:psychology; D010808:Physical Examination; D011247:Pregnancy; D011296:Prenatal Diagnosis