Literature DB >> 2160110

[Symptomatic calcification in the newborn. Phenocopies of chondrodysplasia punctata].

A Leicher-Düber1, R Schumacher, J Spranger.   

Abstract

Stippled epiphyses occur in the new-born and young infant in the different hereditary forms of chondrodysplasia punctata. Symptomatic stippling has been described also in association with chromosomal anomalies, gangliosidosis and drug induced embryopathies. We present patients with Cumarin-embryopathy (2), fetal alcohol syndrome (1), Zellweger-syndrome (2) and chromosomal anomaly 16 (1) and discuss the typical roentgenographic features, distribution and differential diagnosis of epiphyseal stippling.

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Year:  1990        PMID: 2160110     DOI: 10.1055/s-2008-1046905

Source DB:  PubMed          Journal:  Rofo        ISSN: 1438-9010


  1 in total

1.  Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence?

Authors:  N Elçioglu; C M Hall
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

  1 in total

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