ALKAPTONURIA Report of Three Cases from one Family Tree
نویسندگان
چکیده
منابع مشابه
Lipoid proteinosis: Report of three cases in one family
Lipoid proteinosis, a rare autosomal recessive disorder, presents in early childhood with hoarseness, skin infiltration and thickening, beaded papules on eyelid margins, and facial acneiform or pock- like scars. Although
متن کاملThree cases of alkaptonuria in one family in Mazandaran Province, Iran
Background: Alkaptonuria is a rare genetic disease leading to the accumulation of homogentesic acid in joint and ear cartilage, sclera and some other tissues causing significant morbidity in these patients. In this paper, we report three cases of Alkaptonuria among the family or household members. Case Presentation: A 51-year-old man with mechanical low back and knee pain was referred to Rheuma...
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purpose: to report three cases of alport syndrome in one family with anterior lenticonus and retinal flecks. patients and findings: three members of one family with consanguineous parents are presented who had renal and ocular involvement. they had anterior lenticonus and a beaten bronze appearance in the macula. reduced visual acuity and photophobia were the chief complaints of these patients...
متن کاملThree cases of alkaptonuria in one family in Mazandaran Province, Iran.
BACKGROUND Alkaptonuria is a rare genetic disease leading to the accumulation of homogentesic acid in joint and ear cartilage, sclera and some other tissues causing significant morbidity in these patients. In this paper, we report three cases of Alkaptonuria among the family or household members. CASE PRESENTATION A 51-year-old man with mechanical low back and knee pain was referred to Rheuma...
متن کاملPseudoxanthoma Elasticum: A Report of Three Cases in a Family
Pseudoxanthoma Elasticum is an inherited disorder characterized by generalized fragmentation and progressive calcification of the elastic tissues in the dermis, blood vessels and Bruch’s membrane of the eye. Herein, we report 3 patients in a family with pseudoxanthoma elasticum: a father and his two sons.
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ژورنال
عنوان ژورنال: Orthopedics & Traumatology
سال: 1978
ISSN: 1349-4333,0037-1033
DOI: 10.5035/nishiseisai.27.406