A Case of Rhizomelic Chondrodysplasia Punctata Complicated with Fetal Arrhythmia

نویسندگان

  • Dilek Dilli
  • Handan Yasar
  • Zekiye Baydar
چکیده

Özet Rizomelik kondrodisplazi punktata (RCDP) ekstremitelerde proksimal kýsalýk, eklem kontraktürleri ve epifizlerde punktat kalsifikasyonlar ile katarakt, geliþme geriliði ve aðýr mental retardasyonla karakterize otozomal resesif kalýtýlan nadir görülen bir sendromdur. Bu yazýda sunulan yenidoðan olguya klinik, biyokimyasal ve radyolojik bulgular ile RCDP tanýsý konuldu. Olgu, RCDP’ de nadir görülen konjenital kalp hastalýðýnýn neden olduðu fetal aritmi komplikasyonu geliþmiþ olmasý nedeniyle sunuldu.

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تاریخ انتشار 2008