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Iranian Journal of Neonatology، جلد ۱۲، شماره ۲، صفحات ۱۰۸-۱۱۲
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
Arthrogryposis-renal Dysfunction-cholestasis Syndrome |
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| چکیده انگلیسی مقاله |
Background: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive disorder mostly affecting the liver, kidney, skin, as well as central nervous and musculoskeletal systems. This multisystemic disease results from mutations in the vacuolar protein sorting 33B (VPS33B) or VPS33B- interacting protein, and apical-basolateral polarity regulator (VIPAR) genes. This is a lethal disorder from which few patients can survive at the first year of their life. This syndrome exhibits a wide range of phenotypes, such as ichthyosis, hypothyroidism, agenesis of the corpus callosum, and congenital cardiovascular anomalies. Case report: Here, we present the case of a 32-day-old male neonate with respiratory distress admitted to Children's Medical Center Hospital in Tehran, Iran, in August 2019. He had ichthyosis, cholestasis with arthrogryposis as bilateral clubfeet, developmental dysplasia of the hip, and flexion contractures in upper limbs. During hospitalization, he received Shohl’s solution for metabolic acidosis, intravenous antibiotics, fat-soluble vitamins, and levothyroxine. Other presentations in our case included ichthyosis, failure to thrive, congenital heart disease, and hypothyroidism. Conclusion: Timely diagnosis, supportive care and genetic counseling should be provided for better outcome. Keywords: |
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| کلیدواژه‌های انگلیسی مقاله |
Developmental dysplasia of the hip, Hypothyroidism, Ichthyosis, vacuolar protein sorting 33B |
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| نویسندگان مقاله |
| Ziba Mosayebi
Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran
| Ameneh Lamsehchi
Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran
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| نشانی اینترنتی |
https://ijn.mums.ac.ir/article_16790.html |
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| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
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| نوع مقاله منتشر شده |
گزارش موارد نادر |
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