Pena-Shokeir sesndromu: Bir olgu sunumu (Pena-Shokeir syndrome:a case report)

Abstract

Pena-Shokeir Syndrome is a rare, autosomal recessive disorder. PSS is characterized by multible ankyloses, various facial anomalies, pulmonary hipoplasia, short umblical cord and polyhidramniosis. We report a patient who is 32 weeks of gestational age and has PSP compatible findings. The patient had facial anomalies, multible anklosis and pulmonary disease. The patient died in 3 month of her life due to pulmonary complications. We present this case, which is rare and has multible etiology, in order to a contribution to the literature.

Keywords

• Multiple konjenital anomali; Pena-Shokeir Sendromu

Karaaslan et al

Abstract

Pena-Shokeir Sendromu (PSS) nadir görülen bir kalıtsal hastalıktır. PSS multipl ankiloz, fasial anomaliler, pulmoner hipoplazi, gelişme geriliği, kısa umblikal kord, polihidramnios ile karakterizedir. Yazımızda 32 haftalık ikiz eşi olarak doğan PSP’li bir hasta sunuldu. Olgumuzda yüz anomalileri, eklem bulguları ve akciğer sorunları vardı. Hasta yaşamının üçüncü ayında akciğer komplikasyonları ile kaybedildi. Bu olgu, PSS’nin nadir görülmesi ve etiyolojisinin tam olarak belli olmaması nedeniyle literatüre katkı amacıyla sunulmuştur

Keywords

• Multiple konjenital anomali, Pena-Shokeir Sendromu

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