Scopus
🔓 Açık Erişim YÖKSİS Eşleşti
Consecutive successful pregnancies of a patient with nail-patella syndrome
Case Reports in Perinatal Medicine · Ağustos 2018
YÖKSİS Kayıtları
Consecutive successful pregnancies of a patient with nail-patella syndrome
Case Reports in Perinatal Medicine · 2018 Emerging Sources Citation Index
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Makale Bilgileri
DergiCase Reports in Perinatal Medicine
Yayın TarihiAğustos 2018
Cilt / Sayfa7
Scopus ID2-s2.0-105029053209
Erişim🔓 Açık Erişim
Özet
Nail-patella syndrome is a genetic disorder with some characteristic features (nail dysplasia, patellar hypoplasia, elbow dysplasia, iliac horns and renal symptoms). Renal involvement of these patients requires close follow-up in pregnancy to avoid complications like preeclampsia. In this report, we have presented two consecutive successful pregnancies of a patient with nail-patella syndrome. The first pregnancy resulted with a newborn with nail-patella syndrome and the second pregnancy resulted in a healthy newborn without any obstetric complications. Renal functions were closely followed-up during both pregnancies, and basal renal functions were normal in the pregestational period, which seems to be the most important predictor of obstetric hypertensive complications. Prenatal diagnosis of nail-patella disease is also challenging due to several possible mutations and a wide range of phenotypes of the disease. Ultrasonographic examination findings may be suspicious for the disease in the fetus like patellar hypoplasia or joint contractures.
Yazarlar (5)
1
Erdem Fadiloglu
2
Canan Unal
3
Gökçen Örgül
ORCID: 0000-0003-0578-4230
4
Atakan Tanacan
ORCID: 0000-0001-8209-8248
5
Ms Beksac
Anahtar Kelimeler
Genetic counselling
nail-patella syndrome
preeclampsia
prenatal diagnosis
Kurumlar
Hacettepe Üniversitesi
Ankara Turkey