ULTRASOUND PRENATAL-DIAGNOSIS OF THE NAIL-PATELLA SYNDROME

Citation
M. Feingold et al., ULTRASOUND PRENATAL-DIAGNOSIS OF THE NAIL-PATELLA SYNDROME, Prenatal diagnosis, 18(8), 1998, pp. 854-856
Citations number
14
Categorie Soggetti
Genetics & Heredity","Obsetric & Gynecology
Journal title
ISSN journal
01973851
Volume
18
Issue
8
Year of publication
1998
Pages
854 - 856
Database
ISI
SICI code
0197-3851(1998)18:8<854:UPOTNS>2.0.ZU;2-D
Abstract
The Nail-Patella syndrome (NPS) is an autosomal dominant connective-ti ssue disorder characterized by the absence or hypoplasia of the nails and patella, posterior illiac horns, elbow deformities, congenital nep hropathy cervical ribs and eye problems. The presence of the posterior iliac horns is pathognomonic and have been observed in more than 80 p er cent of cases. In this report, we present the first case of prenata l diagnosis of NPS by ultrasound. The possible kidney involvement, com bined with other, milder. complications make the prenatal diagnosis of this syndrome worthwhile. (C) 1998 John Wiley & Sons, Ltd.