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- Title
Consecutive successful pregnancies of a patient with nail-patella syndrome.
- Authors
Fadiloglu, Erdem; Unal, Canan; Orgul, Gokcen; Tanacan, Atakan; Beksac, Ms
- Abstract
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.
- Subjects
KIDNEY physiology; NAIL-patella syndrome; CONTRACTURE (Pathology); HYPERTENSION; EVALUATION of medical care; GENETIC mutation; PATELLA; PREECLAMPSIA; PREGNANCY; PREGNANCY complications; PRENATAL diagnosis; ULTRASONIC imaging; PHENOTYPES; DIAGNOSIS
- Publication
Case Reports in Perinatal Medicine, 2018, Vol 7, Issue 2, pN.PAG
- ISSN
2192-8932
- Publication type
Article
- DOI
10.1515/crpm-2018-0016