Skeletal dysplasias

Semin Fetal Neonatal Med. 2005 Jun;10(3):233-41. doi: 10.1016/j.siny.2004.12.001.

Abstract

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.

Publication types

  • Review

MeSH terms

  • Bone Diseases, Developmental / diagnosis*
  • Counseling
  • Diagnostic Errors
  • Female
  • Genetic Testing
  • Humans
  • Infant, Newborn
  • Parents / psychology
  • Physical Examination
  • Pregnancy
  • Prenatal Diagnosis