Skeletal dysplasias.

Jane A Hurst; Helen V Firth; Sarah Smithson

doi:10.1016/j.siny.2004.12.001

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PubMed · 15878700

Skeletal dysplasias.

Jane A Hurst·Helen V Firth·Sarah Smithson

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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.

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Bone Diseases, Developmental Counseling Diagnostic Errors Female Genetic Testing Humans Infant, Newborn Parents Physical Examination Pregnancy Prenatal Diagnosis Journal Article Review

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Jane A Hurst, Helen V Firth, Sarah Smithson. 2005. Skeletal dysplasias.. https://doi.org/10.1016/j.siny.2004.12.001

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