Clinical and morphological phenotype of geleophysic dysplasia.
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.
Division of Genetics, Department of Pediatrics, Dokuz Eylül University, Yzmir, Turkey. ozlem.giray@deu.edu.tr
Ozlem
O
Giray
Mustafa
M
Kýr
Elçin
E
Bora
Gül
G
Saylam
Baran
B
Ugurlu
Duygu
D
Gürel
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002675:Child, Preschool; D019066:Facies; D017809:Fatal Outcome; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010641:Phenotype