Baller-Gerold sendromu, kraniosinostoz, radius hipoplazisi veya yoklugu, psikomotor gerilik, iskelet anomalileri, çesitli kraniyo-fasial anomaliler, kardiyak ve renal patolojilerle karakterize, otozomal resesif olarak kalitilan, nadir görülen bir sendromdur. En sik görülen kranio-fasiyal anomaliler; genis alin, mikrognati, oksisefali, düsük ve malforme kulaklar, hipertelorizm, belirgin burun kökü ve oral kavite ile ilgili anomalilerdir. Iskelet anomalilerin basinda ise radiyal veya ulnar hipoplazi, karpal kemiklerin yoklugu veya füzyonu ve vertebra anomalileri gelmektedir. Ventriküler septal defekt ve subaortik valvuler stenoz en sik eslik eden kardiak anomalilerdir. Ani bebek ölümü sik olarak görülmektedir.Burada burun kökü basik, el ve ayak parmak anomalileri , sol ön kol kisaligi, düsük kulak yapisi, sol kulak önünde skin tag, küçük ön fontanel, genis alin yapisi ve konjenital kalp hastaligi (küçük PDA, PFO) ile Baller-Gerold sendromu tanisi konulan 1 günlük kiz olgu sunularak ilgili literatür gözden geçirilmistir.
Baller-Gerold Sendromu: Olgu Sunumu - POSTER: 76
Case Report
Baller-Gerold Sendromu: Olgu Sunumu - POSTER: 76
J Curr Pediatr 2005;3(1)
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- 1Uludag Üniversitesi Tip Fakültesi, Çocuk Sagligi Ve Hastaliklari Anabilim Dali, Neonatoloji Bilim Dali, Bursa
- 2Uludag Üniversitesi Tip Fakültesi, Çocuk Sagligi Ve Hastaliklari Anabilim Dali, Neonatoloji Bilim Dali, Bursa, Türkiye
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