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Makrosefalinin eşlik ettiği Poland sendromu: bir olgu sunumu

Poland syndrome in association with macrocephaly: a case report

Journal Name:

  • Gülhane Tıp Dergisi

Publication Year:

  • 2007

Key Words:

Keywords (Original Language):

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Abstract (2. Language): 
Poland syndrome is a congenital anomaly characterized by the absence of ipsilateral pectoralis major muscle and deformities of upper extremities and anterior chest wall. Its incidence is one in 30.000 live births. Most of the cases with Poland syndrome are sporadic, however an autosomal dominant inheritance is possible. Hypoplasia or absence of the nipple, congenital diaphragmatic hernia, dextrocardia, microcephaly and psychomotor retardation are less rarely seen. However association of this syndrome with macrocephaly has, to our knowledge, not been reported previously. We herein report a case of Poland syndrome presenting with macrocephaly and review the characteristics of this syndrome.
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Abstract (Original Language): 
Poland sendromu başlıca pektoralis majör kasının tek taraflı yokluğu, üst ekstremite ve göğüs ön duvar deformiteleri ile karakterize konjenital bir sendromdur. Sıklığı yaklaşık 30.000 canlı doğumda birdir. Çoğunluğu sporadik olup, otozomal dominant geçiş de gösterebilmektedir. Poland sendromunda daha nadir olarak meme başı anomalileri, konjenital diyafragma hernisi, dekstrokardi, mikrosefali ve psikomotor gelişme geriliğinin görülebileceği bildirilmiştir. Ancak bildiğimiz kadarıyla literatürde makrosefali ile birlikteliği bildirilmemiştir. Burada makrosefalinin eşlik ettiği bir Poland sendromu olgusu sunulmuş ve literatür eşliğinde sendromun özellikleri tartışılmıştır.
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REFERENCES

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