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Infantile Systemic Hyalinosis: Report of 17-year Experience
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نویسنده
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Raeeskarami Reza ,Aghighi Yahya ,Afshin Azadeh ,Malek Abdolreza ,Zamani Ali ,Ziaee Vahid
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منبع
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innovative journal of pediatrics - 2014 - دوره : 24 - شماره : 6 - صفحه:775 -778
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چکیده
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Background: infantile systemic hyalinosis (ish) is a very rare autosomal recessive disorder characterized by connective tissue involvement as hyaline deposition in skin, gastrointestinal tract, muscles, glands and other organs. cases presentation: we report eight iranian children (4 male and 4 female) with ish referred to our hospital from 1996 to 2013. the illness had been diagnosed by clinical manifestations and disease progression. six of them died and two are alive but very sick. conclusion: ish is a very rare disorder with poor prognosis. seventy five percent of our 8 patients died before 2 years old due to severe diarrhea, malabsorption and/ or infection.
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کلیدواژه
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Infantile Systemic Hyalinosis; Joint Contractures ,Skin Thickness; Blond Hair; Hyaline Deposits
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آدرس
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tehran university of medical sciences tums, Valiye-Asr Hospital, Imam Hospital Complex, Department of Pediatrics, Pediatric Rheumatology Research Group, ایران, tehran university of medical sciences tums, Valiye-Asr Hospital, Imam Hospital Complex, Department of Pediatrics, ایران, tehran university of medical sciences tums, Valiye-Asr Hospital, Imam Hospital Complex, ایران, mashhad university of medical sciences, Imam Reza Hospital, Department of Pediatrics, ایران, tehran university of medical sciences tums, Valiye-Asr Hospital, Imam Hospital Complex, Department of Pediatrics, ایران, tehran university of medical sciences tums, Children’s Medical Center, Pediatrics Center of Excellence, Rheumatology Research Center, Department of Pediatrics, ایران
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Authors
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