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An unclassifiable type of spondylo-peripheral epiphyseal dysplasia associated with 21 trisomy.

Authors
  • Ioan, D M
  • Popa, M
  • Fryns, J P
Type
Published Article
Journal
Genetic counseling (Geneva, Switzerland)
Publication Date
Jan 01, 1993
Volume
4
Issue
1
Pages
59–62
Identifiers
PMID: 8471223
Source
Medline
License
Unknown

Abstract

We present an unusual type of skeletal dysplasia in a 6 1/2 year-old female child with Down syndrome due to classical 21 trisomy. Differential diagnosis with the pseudoachrondroplastic forms of spondyloepiphyseal dysplasia shows that the epiphyseal changes in the present patient are unique and do not allow to classify the skeletal changes of the present patient in this group of disorders.

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