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Start arrow Aberracje Chromosomowe arrow Zespół Edwardsa

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Zespół Edwardsa

Źródło: http://pl.wikipedia.org

(ang. Edwards' syndrome, trisomy 18) jest to trisomia chromosomu 18 (47,XX,+18/47,XY,+18). Częstość występowania zespołu szacowana jest na 1:8.000 urodzeń [1]. Przyczyną jest nondysjunkcja w I lub II podziale mejotycznym; nierzadko spotyka się mozaicyzm. Występuje przyrost masy DNA o około 2,8%[potrzebne źródło].

Epidemiologia

Około 95% płodów z trisomią 18 ulega spontanicznemu poronieniu. 30% żywo urodzonych dzieci z zespołem Edwardsa umiera w pierwszym miesiącu życia, tylko 10% przeżywa 1 rok[potrzebne źródło]. Częstość zespołu Edwardsa wzrasta z wiekiem matki, podobnie jak w zespole Downa; zespół Edwardsa 4 razy częściej dotyczy dziewczynek niż chłopców.

Obraz kliniczny

- niska masa urodzeniowa noworodka (dystrofia wewnątrzmaciczna)
- deformacje czaszki:

  • małogłowie (microcephalia) 
  • łódkogłowie (scaphocephalia) 
  • dolichocephalia 
  • wydatna potylica (91%) 
  • hiperteloryzm oczny 
  • wąskie szpary powiekowe (80%) 
  • wady rogówki i tęczówki 
  • mikrognacja 
  • mikrostomia (86%) 
  • poszerzenie szwów i ciemiączek

- nisko osadzone, dysplastyczne małżowiny uszne
- pojedyncza bruzda zgięciowa dłoni 
- nadmiar skóry na szyi (86% [2])
- szeroko rozstawione brodawki sutkowe (hiperteloryzm brodawek sutkowych - 90% [2])
- anomalie szkieletu:

  • krótki mostek (blisko 100%)
  • zwichnięcie stawów biodrowych (82%)
  • deformacje zgięciowe palców, nakładające się na siebie palce 
  • stopa końsko-szpotawa (89%)
  • wydatne pięty 
  • wygięcie podeszwowe paluchów ("młotkowaty paluch" - 89%)

- wady serca:

  • przetrwały przewód tętniczy (PDA) 
  • ubytek przegrody międzykomorowej (VSD)

- uchyłek Meckela 
- wady rozwojowe nerek 
- hipoplazja paznokci (blisko 100% [2])
- zmiany dermatoglifów
- wady narządów płciowych

  • hipoplazja warg sromowych większych (blisko 100%) 
  • przerost łechtaczki (89%) 
  • drgawki (62%) 
  • głębokie upośledzenie umysłowe.



 

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