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Journal of Pediatrics Review، جلد ۷، شماره ۲، صفحات ۱۱۳-۱۲۰
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عنوان انگلیسی Primordial Dwarfism: A Case Series From North East of Iran and Literature Review
چکیده انگلیسی مقاله  Background: Primordial dwarfism is a rare group of genetic disorders that characterized by intra uterine growth retardation, short stature at birth and growth deficiency that persists throughout life. This disorder caused by various mechanisms such as chromosomal abnormalities, molecular changes and mutation of genes that result in developmental defects, facial dysmorphism and skeletal abnormalities in fetus. Primordial dwarfism includes of five specific subtypes that definitions vary from one type to another. Objective: The aim of this study was to report of seven cases of Primordial dwarfism as the first Case Series in Iran and review of the literatures about the disorder. Methods: This study has accomplished to have an overview of our PD patients and summarizes clinical findings of seven cases presented with severe growth retardation and clinical findings of this disorder that had no explain with other disorders, who referred to our department ( Pediatric endocrine wards, Imam Reza Hospital) from June.2016 to September .2017. We also conducted a literature review about primordial dwarfism on Google scholar and Medline in PubMed area to compare our results with other reports. Results: During the study period seven patients (5females and 2 males) between the ages of 18 months and 12 years old were identified. The most prevalent referring symptoms were growth retardation that presented in all cases. Other clinical signs and symptoms were included intrauterine growth retardation, low birth weight, specific clinical features such as microcephaly, narrow face, high pitch voice, prominent nose and other than that .Biochemical and imaging studies were done to rule out other diseases that can make growth retardation. The diagnosis of Primordial Dwarfism found due to clinical aspects. Conclusions: This review will provide an overview of the clinical aspects and different subtypes of primordial dwarfism disorder and help to clinicians to   have an attention to it for diagnose and further evaluations
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نویسندگان مقاله | Rahim Vakili
Pediatric endocrinology and metabolism, department of Pediatric Endocrinology and Metabolism, Imam Reza Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.


| Somayeh Hashemian
Fellowship of pediatric endocrinology and metabolism, student of research committee , department of Pediatric Endocrinology and Metabolism, Imam Reza Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
نشانی اینترنتی http://jpr.mazums.ac.ir/browse.php?a_code=A-10-366-1&slc_lang=en&sid=1
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زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده Pediatric Endocrinology
نوع مقاله منتشر شده Case & Review
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