Case Reports
doi: 10.1179/146532808X302206.
Clinical and morphological phenotype of geleophysic dysplasia
Affiliations
- PMID: 18510828
- DOI: 10.1179/146532808X302206
Item in Clipboard
Case Reports
Clinical and morphological phenotype of geleophysic dysplasia
Ann Trop Paediatr.
2008 Jun.
Abstract
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.
Similar articles
-
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia.Prenat Diagn. 1997 Nov;17(11):1067-70. Prenat Diagn. 1997. PMID: 9399356
-
Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family.Cardiol Young. 2015 Jan;25(1):81-6. doi: 10.1017/S1047951113001753. Epub 2013 Nov 6. Cardiol Young. 2015. PMID: 24192049
-
Patients with geleophysic dysplasia are not always geleophysic.Am J Med Genet. 1997 Oct 3;72(1):85-90. Am J Med Genet. 1997. PMID: 9295082 Review.
-
[Congenital heart disease and acquired valvular lesions in pregnancy].Herz. 2003 May;28(3):227-39. doi: 10.1007/s00059-003-2467-y. Herz. 2003. PMID: 12756480 Review. German.
-
Acromicric dysplasia and geleophysic dysplasia: similarities and differences.Eur J Pediatr. 1996 Apr;155(4):311-4. doi: 10.1007/BF02002719. Eur J Pediatr. 1996. PMID: 8777926
Cited by
-
Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia.Matrix Biol. 2019 Sep;82:38-53. doi: 10.1016/j.matbio.2019.02.001. Epub 2019 Feb 7. Matrix Biol. 2019. PMID: 30738849 Free PMC article.
-
Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.J Hum Genet. 2014 Oct;59(10):563-7. doi: 10.1038/jhg.2014.73. Epub 2014 Aug 21. J Hum Genet. 2014. PMID: 25142510
-
Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia.Dis Model Mech. 2015 May;8(5):487-99. doi: 10.1242/dmm.017046. Epub 2015 Mar 11. Dis Model Mech. 2015. PMID: 25762570 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Medical