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"description": " \r\nПолидактилия – деформация конечности, характеризующаяся наличием дополнительных пальцев на кистях или стопах. ",
"etiology": "<p>Этиология данной патологии изучена не до конца. Однако достоверно установлено, что самой распространенной причиной является наследственность. </p>\r\n<p>По другой версии полидактилия является одним из симптомов генных синдромов и сложных хромосомных синдромов (например, синдрома Патау). Всего генетика насчитывает около 120 синдромов, которые могут сопровождаться полидактилией. </p>",
"pathogenesis": "<p>Семейный тип наследования полидактилии – аутосомно-доминантный с неполной пенетрантностью, т.е. носителями мутационного гена может быть один из родителей – мать или отец, но при этом оба они могут быть здоровыми. Тем не менее, вероятность унаследования аномалии составляет порядка 50%. </p>\r\n<p>У человека описаны 4 гена, вызывающих полидактилию (GLI3, ZNF141, MIPOL1 и PITX1), а также обнаружены ещё 10 генных локусов. </p>",
"diagnostics": "<p>Диагностику полидактилии проводят с помощью клинических, генетических, рентгенологических, биомеханических и других методик исследования. </p>\r\n<p>Клинический осмотр ребенка осуществляется педиатром, ортопедом и генетиком для того, чтобы выявить функциональные и анатомические нарушения развития, а также установить тип наследования полидактилии. </p>\r\n<p>Обязательно делается рентгенография пораженной кисти или стопы, чтобы оценить состояние суставного и костного аппарата. При необходимости осмотра хрящевых структур и мягких тканей, проводится магнитно-резонансная томография. </p>\r\n<p>Генетический анализ направлен на составление прогноза вероятности рождения у данной пары ребенка с анатомической аномалией. Поскольку наиболее характерен аутосомно-доминантный тип наследования полидактилии, для развития болезни достаточно, чтобы мутантный аллель передался от одного из родителей. </p>\r\n<p>В случае если шестипалость представляет собой симптом хромосомного или генетического отклонения, то необходима тщательная пренатальная диагностика, которая включает амниоцентез (исследование околоплодной жидкости) и биопсию хориона, а также ультразвуковое исследование. </p>",
"treatment": "<p>Лечение полидактилии проводится только хирургическим путем. Если добавочный палец соединяется с основным только с помощью кожной мембраны, - его удаление проводится в первые месяцы жизни ребенка. Во всех остальных случаях целесообразно отложить оперативное вмешательство до возраста 1 года. </p>\r\n<p>Варианты хирургической коррекции полидактилии в зависимости от типа деформации могут быть различны: </p>\r\n<ul>\r\n<li>удаление добавочного сегмента (пальца) без операции на основном пальце; </li>\r\n<li>удаление добавочного сегмента (пальца) с корригирующей остеотомией основного пальца; </li>\r\n<li>удаление добавочного сегмента (пальца) с выполнением кожной, сухожильной или костной пластики. </li>\r\n</ul>\r\n<p>Реабилитационные мероприятия в послеоперационном периоде включают занятия ЛФК, физиотерапевтические процедуры (магнитотерапию, инфракрасное облучение), массаж. </p>",
"prevention": "<p>Профилактика полидактилии предполагает медико-генетическое консультирование пар, в семьях которых имеются наследуемые случаи полидактилии; тщательное планирование беременности и исключение любых возможных неблагоприятных влияний в первом триместре развития плода. Профилактика послеоперационных рецидивов и осложнений заключается в выборе оптимального метода хирургической коррекции, проведении полноценной реабилитации. После операции дети должны находиться на диспансерном наблюдении у детского ортопеда до завершения периода интенсивного роста кисти и стопы (14-15 лет). </p>",
"clinical_picture": "<p>Основополагающим клиническим проявлением недуга является наличие у ребёнка дополнительных сегментов на руках или ногах. При этом добавочные сегменты бывают совершенно нормальными по своим размерам и функциям или же выступают в качестве нефункционирующего придатка. </p>\r\n<p>Зачастую лишние пальцы характеризуются: </p>\r\n<ul>\r\n<li>небольшими размерами, в сравнении со здоровыми пальцами верхней или нижней конечности; </li>\r\n<li>уменьшенным количеством фаланг; </li>\r\n<li>отсутствием костной или сухожильной основы – достаточно редко лишний палец будет полноценным. Зачастую это нефункционирующее мягкотканное образование на ножке из кожи; </li>\r\n<li>сдвоением ногтевой фаланги – наблюдается крайне редко. </li>\r\n</ul>\r\n<p>Помимо избыточного количества пальцев, при подобной патологии присутствует деформация костно-суставного аппарата. Подобное нарушение будет прогрессировать, чем старше будет становиться человек, что будет способствовать возникновению деформаций и различных нарушений вторичного характера. </p>",
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"etiology": "<p>Чаще всего патология у ребенка обусловлена наследственным фактором по аутосомно-доминантному типу, и синдактилия носит семейный характер. Еще одной причиной синдактилии может быть нарушение формирования и дифференциации конечностей у плода в период внутриутробного развития, на что влияют различные неблагоприятные факторы, воздействующие на организм беременной женщины. К таковым относятся: </p>\r\n<ul>\r\n<li>Токсические воздействия: неблагоприятная экология, употребление алкоголя, прием некоторых медикаментов, профессиональные вредности и др.; </li>\r\n<li>Инфекционные заболевания (например, туберкулез, грипп, сифилис); </li>\r\n<li>Рентгеновское облучение. </li>\r\n</ul>\r\n<p>Также известны случаи приобретенной синдактилии, которая возникает после химических или термических ожогов. Сращение пальцев может быть сопутствующим генным и хромосомным синдромам пороком. </p>",
"pathogenesis": "<p>Наличие синдактилии у ребенка может быть обусловлено наследственным фактором. В этом случае имеет место аутосомно-доминантный тип наследования, а синдактилия носит семейный характер. Свыше 20% сложных форм синдактилии имеют наследственную форму. </p>\r\n<p>При отсутствии семейной истории синдактилии следует думать о нарушении формирования и дифференциации конечностей плода в процессе эмбриогенеза под влиянием различных неблагоприятных факторов. Закладка кисти происходит на 4-5 неделе внутриутробного развития; на этом сроке для плода характерна физиологическая синдактилия. При нормальном развитии на 7-8 неделе формируются пальцы кисти за счет быстрого роста пальцевых лучей и замедления роста межпальцевых промежутков. При нарушении редукции межпальцевых перегородок пальцы не разъединяются, т. е. развивается синдактилия. </p>",
"diagnostics": "<p>Синдактилия выявляется у новорожденного сразу после рождения врачом-неонатологом. Дальнейшее обследование и наблюдение ребенка проводится детским хирургом или детским ортопедом. Для исключения генных и хромосомных аномалий ребенок с синдактилией должен быть проконсультирован генетиком. </p>\r\n<p>Несмотря на то, что диагноз синдактилии может быть установлен уже в ходе визуального осмотра, для уточнения формы порока и выработки лечебной тактики необходимо проведение инструментальных исследований. Рентгенография кистей и стоп в двух проекциях позволяет оценить состояние суставов, плотность костной ткани, наличие и протяженность сращения костей. С целью выявления особенностей архитектоники сосудистой сети и кровообращения в сращенных пальцах выполняется реовазография, УЗИ, ангиография, электротермометрия.</p>",
"treatment": "<p>Существует пять методик, которыми может быть выполнена процедура устранения дефекта: </p>\r\n<ul>\r\n<li>рассечение перепонки без применения пластики; </li>\r\n<li>разделение пальцев, подвергшихся сращению путём кожной пластики региональными тканями; </li>\r\n<li>разъединение пальцев с применением свободной кожной пластики; </li>\r\n<li>рассечение пальцев при помощи комбинированной пластики; </li>\r\n<li>многоэтапная процедура, подразумевающая осуществление кожной, сухожильной, мышечной и костной пластики. </li>\r\n</ul>\r\n<p>Подходящая методика терапии устанавливается в индивидуальном порядке для каждого пациента, при этом клиницистами учитываются форма и характер патологии. </p>\r\n<p>Оптимальной возрастной категорией, для выполнения хирургической процедуры является пять лет, однако иногда врачебное вмешательство может быть проведено раньше указанного срока. </p>\r\n<p>Послеоперационный период включает в себя наложение съёмной гипсовой лонгеты, обеспечивающей иммобилизацию разогнутых или разведённых пальцев. Продолжительность применения такой меры составляет примерно четыре месяца. </p>\r\n<p>Спустя четырнадцать дней, после осуществления той или иной операции начинают восстановительную терапию при помощи физиотерапевтических процедур. </p>",
"prevention": "<p>Профилактика полидактилии предполагает медико-генетическое консультирование пар, в семьях которых имеются наследуемые случаи полидактилии; тщательное планирование беременности и исключение любых возможных неблагоприятных влияний в первом триместре развития плода. Профилактика послеоперационных рецидивов и осложнений заключается в выборе оптимального метода хирургической коррекции, проведении полноценной реабилитации. После операции дети должны находиться на диспансерном наблюдении у детского ортопеда до завершения периода интенсивного роста кисти и стопы (14-15 лет). </p>",
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}
]
}
