A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis

Daşar T., YILDIZ A. E., Demirkıran G., ÜTİNE G. E., ŞİMŞEK KİPER P. Ö.

European Journal of Medical Genetics, cilt.68, 2024 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 68
  • Basım Tarihi: 2024
  • Doi Numarası: 10.1016/j.ejmg.2024.104924
  • Dergi Adı: European Journal of Medical Genetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Anahtar Kelimeler: BMPER, Diaphanospondylodysostosis, Ischiospinal dysotosis, Scoliosis
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Diaphanospondylodysostosis is a rare genetic skeletal disorder caused by biallelic variants in the BMPER gene. The term, diaphanospondylodysostosis, includes ischiospinal dysotosis, which was previously known as a distinct entity with milder clinical features. The clinical phenotype of diaphanospondylodysostosis is quite variable with mortality in early postnatal life in some patients. Main clinical and radiographic features are narrow thorax, vertebral segmentation defects, rib anomalies, ossification defects of vertebrae, ischium and sacrum, and renal cysts. In this study, we report on a 14-year-old girl patient with diaphanospondylodysostosis harbouring a novel BMPER mutation. The patient presented with severe scoliosis and severely hypoplastic/aplastic distal phalanges of the fingers and toes, findings yet hitherto not described in this syndrome.