Long-term survival with diaphanospondylodysostosis (DSD): Survival to 5 years and further phenotypic characteristics

Authors

  • Brian Scottoline,

    1. Division of Neonatology, Department of Pediatrics, Santa Clara Valley Medical Center, San Jose, California
    2. Department of Pediatrics, Stanford University School of Medicine, Stanford, California
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  • Scott Rosenthal,

    1. South Bay Regional Genetics Center, Department of Pediatrics, Santa Clara Valley Medical Center, San Jose, California
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  • Rami Keisari,

    1. Department of Pediatrics, Stanford University School of Medicine, Stanford, California
    2. Division of Pulmonology, Department of Pediatrics, Santa Clara Valley Medical Center, San Jose, California
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  • Rashmi Kirpekar,

    1. Department of Pediatrics, Stanford University School of Medicine, Stanford, California
    2. Division of Nephrology, Department of Pediatrics, Santa Clara Valley Medical Center, San Jose, California
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  • Cathy Angell,

    1. Division of Neonatology, Department of Pediatrics, Santa Clara Valley Medical Center, San Jose, California
    2. Department of Pediatrics, Stanford University School of Medicine, Stanford, California
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  • Robert Wallerstein

    Corresponding author
    1. Department of Pediatrics, Stanford University School of Medicine, Stanford, California
    2. South Bay Regional Genetics Center, Department of Pediatrics, Santa Clara Valley Medical Center, San Jose, California
    • South Bay Regional Genetics Center, Santa Clara Valley Medical Center, 751 S. Bascom Ave., VSC Suite 310, San Jose, CA 95128.
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  • How to Cite this Article: Scottoline B, Rosenthal S, Keisari R, Kirpekar R, Angell C, Wallerstein R. 2012. Long-term survival with diaphanospondylodysostosis (DSD): Survival to 5 years and further phenotypic characteristics Am J Med Genet Part A. 158A:1447–1451.

Abstract

We report on the natural history of diaphanospondylodysostosis (DSD) in the longest known survivor. DSD is a rare form of autosomal recessive vertebral dysotosis recently identified to be caused by a mutation in the BMPER gene. This condition is characterized by absent or severely delayed ossification of vertebral bodies, short broad thorax, short neck, protuberant abdomen, marked respiratory insufficiency, and normal appendicular skeleton. It is one of a number of spinal dysostoses, which are a heterogeneous group of axial skeletal malformations occurring during blastogenesis with continued evolution after birth. Significant medical intervention and at-home support contributed to the long-term survival of our patient. The patient had tracheomalacia, which resulted in respiratory insufficiency with thoracic insufficiency syndrome (TIS). Tracheostomy and vertical expandable prosthetic titanium rib (VEPTR) insertion operations ameliorated his symptoms. In addition, comprehensive physical and occupational therapy was performed due to chronic hypotonia. A consistent feature of all described DSD cases thus far are renal findings of dysplasia, nephrogenic rests or nephroblastomatosis, and/or cysts. The patient's renal cysts were monitored with serial ultrasounds at approximately 6-month intervals. The patient was diagnosed with bilateral renal cysts by ultrasound as a neonate, with eventual diagnosis at approximately 20 months of age with nephroblastoma suggesting this maybe an intrinsic part of DSD. The lack of other cases with nephroblastoma is likely related to the previously reported short period of survival. © 2012 Wiley Periodicals, Inc.

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