Escobar syndrome mimicing congenital patellar syndrome

Amaç & Hipotez:Multipl Pterjium Sendromu anormal yüz, kısa boy, vücudun bazı yerlerinde (servikal, antekübital, popliteal, parmaklararası) deri katlantıları ile karakterize bir sendromdur.

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Temel Bulgular & Veri:Ayrıca Pterjium Kolli Sendromu,Escobar Sendromu veya Pterjium Sendromu diye adlandırılır.

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Sonuç & Katkı:Bu vaka Escobar ve Konjenital Patellar Sendromun komponentlerine aynı anda sahip olduğu için sunulmaktadır.

🔬Tür:Araştırma Makalesi

📍Kapsam:Genişletilmiş Akademik Örneklem

⚙️Değişkenler:Alan Parametreleri

Özet

Multipl Pterjium Sendromu anormal yüz, kısa boy, vücudun bazı yerlerinde (servikal, antekübital, popliteal, parmaklararası) deri katlantıları ile karakterize bir sendromdur. Ayrıca Pterjium Kolli Sendromu,Escobar Sendromu veya Pterjium Sendromu diye adlandırılır. Escobar (Multipl Pterjium) Sendromu nadir bir sendromdur. Bu sendromda intrauterin gelişme geriliği, anaormal yüz, kontraktürler sonuçlanan geniş-yayılımlı pterjiumlar, pitosis, kriptoorşidizm, patellar displazi ve ayak deformiteleri görülür. Primer olarak otozomal resesif geçiş olmak üzere otozomal dominant ve X kromozomuna bağlı kalıtım görülür. Bu vaka Escobar ve Konjenital Patellar Sendromun komponentlerine aynı anda sahip olduğu için sunulmaktadır.

Abstract

Multiple pterygium syndrome (MPS) is a syndrome that is characterized abnormal face, short length and skin pterygiums on some body legions (servical, antecubital, popliteal, interdigital and on neck). It is alsocalled as Pterygium Colli syndrome, Escobar syndrome or Pterygiumsyndrome. Escobar (multyple pterygium) syndrome is a rare syndrome.Intrauterin growth reterdation, abnormal face, wide-spead pterygiumsthat resulted in joint contractures, ptosis, chryptoorchidism, patellardysplasia and foot deformities are seen on this syndrome. Primarly autosomal resesive crossing are observed; also autosomal dominant andX-linked crossing. This case were presented as it has components of Escobar syndrome and Isolated Patellar Aplasia syndrome in same time.

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Bu Makaleye Atıf Yap

EZİRMİK, N., CAN, C. E., YILDIZ, K. (2022). Escobar syndrome mimicing congenital patellar syndrome. Eurasian Journal of Medicine, Cilt: 44 - Sayı: 2, 117–121. https://ajindex.com/articles/509223

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Kaynakça (10)

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