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Am J Med Genet. 1999 Apr 23;83(5):397-401.

Chondrodysplasia punctata stemming from maternal lupus erythematosus.

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Division of Medical Genetics, University of Virginia School of Medicine, Charlottesville, USA.


The finding of stippled epiphyses on a neonatal radiograph generates a wide differential diagnosis, including genetic and teratogenic causes. We report the case of a male infant with stippled epiphyses evident on neonatal radiographs in whom a typical rash of lupus erythematosus developed. The skin abnormalities in the infant resulted in a diagnosis of systemic lupus erythematosus in his mother. Over a 3-year follow-up period, the child has demonstrated strikingly short stature, midface hypoplasia, anomalous digital development, slow resolution of the stippled epiphyses, and near normal cognitive development. The differential diagnosis of chondrodysplasia punctata and the literature supporting maternal lupus as one cause are reviewed.

[Indexed for MEDLINE]

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