Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p
David Coman, Sonya Bacic, Amber Boys, Duncan B Sparrow, Sally L Dunwoodie, Ravi Savarirayan, David J Amor
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WILEY-LISS | Published : 2008
The spondylocostal dysostoses (SCD) are a clinically and genetically heterogeneous group of disorders characterized by defects of vertebral segmentation and rib abnormalities. We report on the diagnosis of two siblings with SCD. 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 made on the basis of radiographic findings comprising multiple anomalies o..View full abstract
Awarded by National Health and Medical Research Council (NHMRC) (Australia)
This work was supported by National Health and Medical Research Council (NHMRC) (Australia) project grant 404804. S.L.D. is a Pfizer Foundation Australia Senior Research Fellow; D.B.S. is a Westfield-Belconnen Fellow.