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، جلد ۱، شماره ۳، صفحات ۸۱-۸۴
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| عنوان انگلیسی |
Joubert Syndrome and Related Disorders: Congenital Hepatic Fibrosis, Autosomal Recessive Polycystic Kidney Disease, and Pigmentary Retinopathy |
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| چکیده انگلیسی مقاله |
Joubert syndrome and related disorders (JSRDs) are a group of anomalies characterized by hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and apnea and hyperpnea in infancy with multiorgan involvement in which the pathognomonic “the molar tooth sign” is present on the brain magnetic resonance imaging. In this paper, we reported on a patient with JSRD who presented with congenital hepatic fibrosis, autosomal recessive polycystic kidney disease, and pigmentary retinopathy. |
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| نویسندگان مقاله |
| Fatemeh Farahmand
Department of Pediatric Gastroenterology, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran
| Hojjatollah Jafari-Fesharaki
Department of Pediatric Gastroenterology, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran
| Rouhullah Edalatkhah
Department of Pediatric Gastroenterology, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran
| Mohammad Eshagh Rozeh
Department of Pediatric Gastroenterology, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran
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| نشانی اینترنتی |
http://crcp.tums.ac.ir/index.php/crcp/article/view/68 |
| فایل مقاله |
اشکال در دسترسی به فایل - ./files/site1/rds_journals/2738/article-2738-2049979.pdf |
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