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Dysostosis

Study results from Royal Children's Hospital in the area of dysostosis published

Published in Women's Health Weekly, October 30th, 2008

"The spondylocostal dysostoses (SCD) are a clinically and genetically heterogeneous group of disorders characterized by defects of vertebral segmentation and rib ahnormalities. We report on the diagnosis of two siblings with SCD," investigators in Parkville, Australia report.

"Diagnosis was first made in a female infant following a pregnancy that was complicated by early fetal hydrops and a nuchal translucency of 8.2 mm in the first trimester. The clinical picture was complicated by the co-existent diagnosis of confined placental mosaicism (CPM) for tetrasomy 9p. To our knowledge, this is the first report of CPM for tetrasomy 9p. Postnatally the diagnosis of SCD was...

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