Cutis laxa sendromu, cildin elastikiyetini kaybettigi ve kivrimlarda gevsekçe sarktigi, konjenital veya edinsel olarak ortaya çikan nadir görülen bir konnektif doku hastaligidir. Klinik tablo ve kalitsal geçis özellikleri heterojenite göstermektedir. Otozomal dominant, X’e bagli resesif ve 3 ayri otozomal resesif tip olmak üzere toplam 5 tipi bulunmaktadir. Otozomal resesif tip II, prenatal ve postnatal büyüme geriligi, motor mental retardasyon, genis fontanel, multipl herniler, iskelet ve vertebra anomalileri, pektus ekskavatus, antimongoloid yüz görünümü, düsük kulak, burun kökü basikligi, öne dogru burun delikleri ve hipertelorizm ile karakterizedir. Burada elastik olmayan cilt yapisi, genis fontaneli, antimongoloid yüz görünümü, düsük kulak, burun kökü basikligi, öne dogru burun delikleri ve hipertelorizmi olup anne baba arasinda ikinci derece akraba evliligi olmasi nedeniyle cutis laxa sendromu (otozomal resesif tip II) tanisi konulan 3 günlük bir olgu sunularak, ilgili literatür gözden geçirilmistir.
Konjenital Cutis Laxa Sendromu Otozomal Resesif Tip II: Olgu Sunumu - POSTER: 79
Case Report
Konjenital Cutis Laxa Sendromu Otozomal Resesif Tip II: Olgu Sunumu - POSTER: 79
J Curr Pediatr 2005;3(1)
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- 1Uludag Üniversitesi Tip Fakültesi, Çocuk Sagligi Ve Hastaliklari Anabilim Dali, Neonatoloji Bilim Dali, Bursa, Türkiye
- 2Uludag Üniversitesi Tip Fakültesi, Çocuk Sagligi Ve Hastaliklari Anabilim Dali, Neonatoloji Bilim Dali, Bursa
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