Literature DB >> 15878700

Skeletal dysplasias.

Jane A Hurst1, Helen V Firth, Sarah Smithson.   

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.

Entities:  

Mesh：

Year:  2005        PMID： 15878700     DOI： 10.1016/j.siny.2004.12.001

Source DB:  PubMed          Journal:  Semin Fetal Neonatal Med        ISSN： 1744-165X            Impact factor:   3.926


  5 in total

Review 1.  Skeletal dysplasia: Respiratory management during infancy.

Authors:  Deepthi Alapati; Thomas H Shaffer
Journal:  Respir Med       Date:  2017-08-01       Impact factor: 3.415

2.  Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood.

Authors:  Hwa Young Kim; Jung Min Ko
Journal:  Ann Pediatr Endocrinol Metab       Date:  2022-06-30

3.  A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.

Authors:  Piya Lahiry; Jian Wang; John F Robinson; Jacob P Turowec; David W Litchfield; Matthew B Lanktree; Gregory B Gloor; Erik G Puffenberger; Kevin A Strauss; Mildred B Martens; David A Ramsay; C Anthony Rupar; Victoria Siu; Robert A Hegele
Journal:  Am J Hum Genet       Date:  2009-01-29       Impact factor: 11.025

4.  Health status of adults with short stature: a comparison with the normal population and one well-known chronic disease (rheumatoid arthritis).

Authors:  Heidi Johansen; Inger-Lise Andresen; Eva E Naess; Kare Birger Hagen
Journal:  Orphanet J Rare Dis       Date:  2007-02-27       Impact factor: 4.123

5.  Morphology and development of a novel murine skeletal dysplasia.

Authors:  Marta Marchini; Elizabeth Silva Hernandez; Campbell Rolian
Journal:  PeerJ       Date:  2019-07-04       Impact factor: 2.984
  5 in total

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