Diaphanospondylodysostosis (DSD) is a rare skeletal dysplasia syndrome resulting from disordered mesenchymal differentiation. Children with DSD generally die in utero or during the first month of life from severe thoracic insufficiency syndrome. An association of DSD with nephroblastomatosis has been observed, but the natural history of such nephroblastomatosis remains poorly characterized due to the rarity of the underlying condition. We describe a patient with DSD who developed bilateral hyperplastic nephroblastomatosis that ultimately evolved into therapy-resistant anaplastic Wilms tumor (nephroblastoma).
*Department of Pediatrics, Division of Pediatric Hematology-Oncology
†Department of Pathology
‡Department of Surgery, Division of Pediatric Surgery, University of California, San Francisco School of Medicine, San Francisco, CA
Dr S.K.T. was supported by National Institutes of Health T32 grants 5T32HD044331 and 1T32CA128583.
The authors declare no conflict of interest.
Reprints: Sarah K. Tasian, MD, The Children’s Hospital of Philadelphia, Division of Oncology, Colket Translational Research Building, 3rd Floor, Room 3022, 3501 Civic Center Boulevard, Philadelphia, PA 19104 (e-mail: firstname.lastname@example.org).
Received July 12, 2011
Accepted December 12, 2011