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1392/5/9، جلد ۲۳، شماره ۴، صفحات -
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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 |
An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene |
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| چکیده انگلیسی مقاله |
Background: Peters Plus syndrome (MIM 261540) is a rare autosomal recessive condition characterized by ocular defects (typically Peters anomaly) and other systemic major/minor abnormalities. Mutations in the B3GALTL gene encoding the β-1,3-glucosyltransferase have been found in virtually all patients with typical Peters Plus syndrome. Case Presentation: We report here a female patient with severe manifestations of Peters Plus syndrome including facial dysmorphism and bilateral corneal opacity associated with left renal pyelo-calicial dilatation and sexual ambiguity. Total sequencing of the B3GALTL gene revealed no mutation in the patient. Conclusion: To our knowledge, sexual ambiguity has not previously been reported in Peters Plus syndrome so far, and renal malformation is also apparently rare in the syndrome. Key Words: Peters-Plus Syndrome; B3GALTL Protein, Human; Facial Dysmorphism with Multiple Malformations; Ambiguous Genitalia |
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| کلیدواژه‌های انگلیسی مقاله |
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| نویسندگان مقاله |
9644---9645---9646--- |
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| نشانی اینترنتی |
http://ijp.tums.ac.ir/index.php/ijp/article/viewArticle/1725 |
| فایل مقاله |
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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 |
Case Report |
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