Kabuki Syndrome: a case report with severe ocular abnormalities
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چکیده
منابع مشابه
Report of a case of Proteus syndrome with severe anemia
Proteus syndrome is a rare congenital disorder comprised of subcutaneous and internal hamartomas, miscellaneous skin and vascular nevi, skeletal and nervous system and eye malformations, with characteristic manifestations including hemihypertrophy, local gigantism, macrodactyly and cerebriform thickness of soles and palms. A 23 year-old man with diagnosis of proteus syndrome had sever ane...
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BACKGROUND Kabuki syndrome is a multi-system disorder with peculiar facial features, and ophthalmic abnormalities are frequently involved. This case report of a child with Kabuki syndrome describes two new previously unreported ophthalmic conditions. CASE PRESENTATION A 3-year-old Taiwanese boy with Kabuki syndrome had a short stature, spinal dysraphism, intellectual disability and typical fa...
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The aim of this paper is to report the oral signs and symptoms of four patients with Kabuki syndrome. All had oral abnormalities affecting the palate, teeth, and/or lips, including wide spacing between the teeth, screwdriver-shaped upper incisors, hypodontia, delayed tooth eruption, narrow spacing in the upper canine area, large pulp chambers of the upper incisors and permanent molars, external...
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ژورنال
عنوان ژورنال: Revista Brasileira de Oftalmologia
سال: 2013
ISSN: 1982-8551
DOI: 10.1590/s0034-72802013000500013