Clinical and morphological phenotype of geleophysic dysplasia.

GİRAY BOZKAYA Ö., Kyr M., Bora E., Saylam G., Ugurlu B., GÜREL D.

Annals of tropical paediatrics, cilt.28, sa.2, ss.161-4, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28 Sayı: 2
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1179/146532808x302206
  • Dergi Adı: Annals of tropical paediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.161-4
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Geleophysic dysplasia (GD) is a rare, recessively inherited lysosomal storage disorder of unknown origin with a progressive course. A 9-year-old Turkish boy born to consanguineous parents with findings typical of GD is reported. Cardiac abnormalities included mitral and aortic stenosis with aortic insufficiency. There was persistent hypo-uricacidaemia, severe pulmonary hypertension and tricuspid insufficiency. He required aortic and mitral valve replacement but, unfortunately, died of a severe pulmonary infection in the post-operative period. The condition has to be differentiated from lysosomal storage disorders such as mucopolysaccharidosis.