Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome
نویسندگان
چکیده
منابع مشابه
Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome
Kabuki syndrome is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. There have been few prior detailed descriptions of strabismus or stereopsis in these patients. We report a patient with Kabuki syndrome who showed small-angle strabismus and poor stereopsis. This case illustrates the ne...
متن کاملKabuki Syndrome
Disease characteristics. Kabuki syndrome (KS) is characterized by typical facial features (elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild to moderate intellectual disability, and postnata...
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Kabuki syndrome is a rare condition characterized by multiple congenital anomalies and intellectual disabilities [1]. The etiology of Kabuki syndrome is unclear, but the syndrome is known to have an autosomal dominant mode of inheritance. Furthermore, mutations in the MLL2 and KDM6A genes have recently been suggested as causes of this syndrome [2]. The five major clinical manifestations of this...
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The identification of de novo dominant mutations in KMT2D (MLL2) as the main cause of Kabuki syndrome (KS) has shed new light on the pathogenesis of this well-delineated condition consisting of a peculiar facial appearance, short stature, organ malformations and a varying degree of intellectual disability. Mutation screening studies have confirmed KMT2D as the major causative gene for KS and ha...
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ژورنال
عنوان ژورنال: Korean Journal of Ophthalmology
سال: 2011
ISSN: 1011-8942
DOI: 10.3341/kjo.2011.25.2.136