Literature DB >> 10369911

Punctate epiphyses associated with Turner syndrome.

S C Morrison1.   

Abstract

The radiographic observation of stippled calcification in cartilage defines the chondrodysplasia punctata group of bone dysplasias. Several other diseases may be associated with the radiographic finding of punctate epiphyses, usually uncommonly - for example, trisomy 21. Other more subtle chromosomal abnormalities also associated with punctate epiphyses include microdeletions of the X chromosome. A case of Turner syndrome with punctate calcification of the epiphyses is described.

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Year:  1999        PMID: 10369911     DOI: 10.1007/s002470050622

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  5 in total

1.  Greater trochanteric stippling in trisomy 7p.

Authors:  Justin R Wilde; Rita L Teele; Salim Aftimos
Journal:  Pediatr Radiol       Date:  2006-06-07

2.  Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature.

Authors:  Elżbieta Jurkiewicz; Beata Marcinska; Joanna Bothur-Nowacka; Anna Dobrzanska
Journal:  Pol J Radiol       Date:  2013-04

3.  A case of rhizomelic chondrodysplasia punctata in newborn.

Authors:  Nalan Karabayır; Gonca Keskindemirci; Erdal Adal; Orhan Korkmaz
Journal:  Case Rep Med       Date:  2014-03-09

4.  Rare Case of Rhizomelic Chondrodysplasia Punctata.

Authors:  Yashwant Mahale; Vikram V Kadu; Amit Chaudhari
Journal:  J Orthop Case Rep       Date:  2015 Jul-Sep

Review 5.  Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review.

Authors:  Hadeel Alrukban; David Chitayat
Journal:  Appl Clin Genet       Date:  2018-04-20
  5 in total

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