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

American Journal of Medical Genetics. Part a
Brian ScottolineRobert Wallerstein

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 moni...Continue Reading

References

Jul 3, 2003·American Journal of Medical Genetics. Part a·Federico PrefumoBaskaran Thilaganathan
May 4, 2004·American Journal of Human Genetics·Neil V WhittockPeter D Turnpenny
Jun 7, 2005·Developmental Cell·Claudia Mieko MizutaniArthur D Lander
Jul 1, 2005·American Journal of Medical Genetics. Part a·Marie GonzalesPierre Maroteaux
Oct 13, 2006·Development·Makoto IkeyaYoshiki Sasai
Sep 4, 2007·American Journal of Medical Genetics. Part a·Nithiwat VatanavicharnWilliam R Wilcox
Mar 4, 2008·Genes, Chromosomes & Cancer·E Cristy RuteshouserVicki Huff
May 20, 2008·American Journal of Human Genetics·Alberto S CornierOlivier Pourquié
Mar 25, 2010·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Richard D WilliamsUNKNOWN SIOP Wilms' Tumour Biology Group

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Citations

Jan 6, 2016·Orphanet Journal of Rare Diseases·Ekaterina KuchinskayaTae-Joon Cho
Oct 16, 2015·Journal of Human Genetics·Zheyuan ZongAnna Lehman
Feb 16, 2018·Clinical Case Reports·Cornelia HofstaetterLuigi Raio

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