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La blefarofimosi è una condizione di riduz … La blefarofimosi è una condizione di riduzione dell'ampiezza della rima palpebrale sia in senso longitudinale (a causa della ptosi palpebrale) sia trasversale (a causa dell'epicanto inverso). Il ponte nasale appare piatto, con ipoplasia dei bordi orbitali, e gli occhi più distanti tra loro rispetto al normale: i soggetti che ne sono affetti presentano uno sguardo caratteristico.tti presentano uno sguardo caratteristico.
, Blepharophimosis is a congenital anomaly i … Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such that they cannot open as far as usual and permanently cover part of the eyes. Both the vertical and horizontal palpebral fissures (eyelid openings) are shortened; the eyes also appear spaced more widely apart as a result, known as telecanthus.y apart as a result, known as telecanthus.
, 先天性家族性瞼口狹小症是會造成眼皮畸形，此亦是此病名字的來源。約有半數患者並無家族患病史，而此症主要是第三對染色體長臂上的FOXL2基因突變所導致。 1983年，此症又按是否不孕分為有的第一型及沒有問題的第二型。 其發生率為因整體發生率極低而未有全球發生率的統計，但顯示此機率不會因種族、性別而有所不同。 遺傳方面，其遺傳方式為體染色體顯性遺傳，但50%患者為偶發案例。
, Блефарофимоз — состояние, при котором паци … Блефарофимоз — состояние, при котором пациент имеет двусторонний птоз верхнего века с уменьшенным размером века как по вертикали, так и по горизонтали. Переносица плоская с гипоплазиями орбитального края. Сокращаются как вертикальные так и горизонтальные глазные щели (раскрытие век). Винь (Vignes) (1889), вероятно, впервые описал эту дисплазию век.ероятно, впервые описал эту дисплазию век.
, Blefarofimose consiste na alteração bilate … Blefarofimose consiste na alteração bilateral anatômica das pálpebras, onde há o estreitamento anormal da fenda palpebral. Também conhecida como Síndrome de Blefarofimose, ou BPES, do inglês Blepharophimosis-ptosis-epicanthus inversus Syndrome, tem sua existência baseada no achado dessa tríade - blefarofimose, ptose palpebral severa e epicanto inverso - além do quarto sinal descrito por Dr. Kohn em 1971, o telecanto.escrito por Dr. Kohn em 1971, o telecanto.
, Blepharophimosis (łac., dosł. stulejka powiekowa) – wada wrodzona o charakterze cechy dysmorficznej, polegająca na zwężeniu szpary powiekowej.
, Blepharophimose, auch Blepharophimose-Syndrom genannt, ist in der Augenheilkunde die Bezeichnung für eine sehr seltene, meist genetisch bedingte Verengung der Lidspalte (Rima palpebrarum) des Auges in horizontaler Richtung.
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Blefarofimose consiste na alteração bilate … Blefarofimose consiste na alteração bilateral anatômica das pálpebras, onde há o estreitamento anormal da fenda palpebral. Também conhecida como Síndrome de Blefarofimose, ou BPES, do inglês Blepharophimosis-ptosis-epicanthus inversus Syndrome, tem sua existência baseada no achado dessa tríade - blefarofimose, ptose palpebral severa e epicanto inverso - além do quarto sinal descrito por Dr. Kohn em 1971, o telecanto.escrito por Dr. Kohn em 1971, o telecanto.
, 先天性家族性瞼口狹小症是會造成眼皮畸形，此亦是此病名字的來源。約有半數患者並無家族患病史，而此症主要是第三對染色體長臂上的FOXL2基因突變所導致。 1983年，此症又按是否不孕分為有的第一型及沒有問題的第二型。 其發生率為因整體發生率極低而未有全球發生率的統計，但顯示此機率不會因種族、性別而有所不同。 遺傳方面，其遺傳方式為體染色體顯性遺傳，但50%患者為偶發案例。
, La blefarofimosi è una condizione di riduz … La blefarofimosi è una condizione di riduzione dell'ampiezza della rima palpebrale sia in senso longitudinale (a causa della ptosi palpebrale) sia trasversale (a causa dell'epicanto inverso). Il ponte nasale appare piatto, con ipoplasia dei bordi orbitali, e gli occhi più distanti tra loro rispetto al normale: i soggetti che ne sono affetti presentano uno sguardo caratteristico.tti presentano uno sguardo caratteristico.
, Blepharophimose, auch Blepharophimose-Syndrom genannt, ist in der Augenheilkunde die Bezeichnung für eine sehr seltene, meist genetisch bedingte Verengung der Lidspalte (Rima palpebrarum) des Auges in horizontaler Richtung.
, Blepharophimosis (łac., dosł. stulejka powiekowa) – wada wrodzona o charakterze cechy dysmorficznej, polegająca na zwężeniu szpary powiekowej.
, Блефарофимоз — состояние, при котором паци … Блефарофимоз — состояние, при котором пациент имеет двусторонний птоз верхнего века с уменьшенным размером века как по вертикали, так и по горизонтали. Переносица плоская с гипоплазиями орбитального края. Сокращаются как вертикальные так и горизонтальные глазные щели (раскрытие век). Винь (Vignes) (1889), вероятно, впервые описал эту дисплазию век.ероятно, впервые описал эту дисплазию век.
, Blepharophimosis is a congenital anomaly i … Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such that they cannot open as far as usual and permanently cover part of the eyes. Both the vertical and horizontal palpebral fissures (eyelid openings) are shortened; the eyes also appear spaced more widely apart as a result, known as telecanthus.y apart as a result, known as telecanthus.
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, Blepharophimosis
, 先天性家族性瞼口狹小症
, Блефарофимоз
, Blepharophimose
, Blefarofimose
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