Chondrodysplasia punctata stemming from maternal lupus erythematosus

The finding of stippled epiphyses on a neonatal radiograph generates a wide differential diagnosis, including genetic and teratogenic causes. We repor t the case of a male infant with stippled epiphyses evident on neonatal rad iographs in whom a typical rash of lupus erythematosus developed, The skin abnormalities in the infant resulted in a diagnosis of systemic lupus eryth ematosus in his mother. Over a 3-year follow-up period, the child has demon strated strikingly short stature, midface hypoplasia, anomalous digital dev elopment, slow resolution of the stippled epiphyses, and near normal cognit ive development. The differential diagnosis of chondrodysplasia punctata an d the literature supporting maternal lupus as one cause are reviewed, Am. J , Med, Genet. 83:397-401, 1999. (C) 1999 Wiley-Liss, Inc.