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ZESPÓŁ PIERRE'A ROBINA

Zespół Pierre'a Robin'a to zespół wad wrodzonych twarzoczaszki, wynikający z zaburzenia rozwoju
żuchwy w okresie embrionalnym zarodka. Częstość jego występowania ocenia się na 1:8.500
urodzeń lub rzadziej. Nie ma zależności, która płeć jest bardziej obciążona. Zarówno dziewczynki,
jak i chłopcy w podobnym stopniu mogą urodzić się z opisywaną sekwencją. Wyjątek stanowi
postać choroby, sprzężona z chromosomem X (chromosom płci).
PRS zwane jest sekwencją a nie zespołem lub syndromem, ponieważ niedorozwinięta szczęka
dolna wywołuje szereg, sekwencję, dalszych zmian, które prowadzą do patologicznego
przemieszczenia języka, a w rezultacie tego do powstania rozszczepu podniebienia.
Objawy
-mała żuchwa - mikrognacja, która się nie rozwija i nie rośnie w miarę upływu życia,
- cofnięta bródka - retrognacja,
- zapadanie języka - glossoptoza (zapadanie się jezyka ku tyłowi - retroglossoptoza), co
blokuje drogi oddechowe i powoduje duszenie się dziecka, obturacyjne bezdechy
- problemy oddechowe i trudności w karmieniu,
- mały język - mikroglosja lub rzadziej olbrzymi, powiększony - makroglosja, lub
przyrośnięty do dna jamy ustnej, czyli skrócone wędzidełko języka - ankyloglosja
- osłabiony odruch ssania
- utrudnione połykanie
- rozszczep podniebienia miękkiego i/lub twardego, w większości przypadków
przypominający kształt litery U lub V (może też wystąpić rozdwojenie języczka albo
podśluzowy rozszczep podniebienia), bez rozszczepu wargi,
- rozszczep podniebienia
- niedorozwój ucha zewnętrznego, częste infekcje ucha środkowego, możliwa głuchota typu
przewodzeniowego.

 


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