Clinical and Genetic Evaluation of the Neonate with Skeletal Dysplasia

  • Bryan J. Cremin
  • Peter Beighton

Abstract

In the skeletal dysplasias a firm diagnosis is essential for meaningful prognostication and effective genetic counseling. This is usually dependent upon the accumulation and correlation of information from a number of sources and as several of the skeletal dysplasias are potentially lethal the opportunity to obtain objective evidence may be fleeting. In these circumstances, a full clinical, genetic, and radiographic evaluation is imperative.

Keywords

Club Foot Skeletal Dysplasia Abnormal Gene Autosomal Recessive Inheritance Antenatal Diagnosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1978

Authors and Affiliations

  • Bryan J. Cremin
    • 1
  • Peter Beighton
    • 2
  1. 1.Department of Radiology, Groote Schuur and Red Cross Childrens HospitalUniversity of Cape TownRondeboschSouth Africa
  2. 2.Department of Human Genetics, Groote Schuur HospitalUniversity of Cape TownObservatorySouth Africa

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