Ultrasound prenatal diagnosis of the Nail-Patella syndrome

Prenat Diagn. 1998 Aug;18(8):854-6.


The Nail-Patella syndrome (NPS) is an autosomal dominant connective-tissue disorder characterized by the absence or hypoplasia of the nails and patella, posterior illiac horns, elbow deformities, congenital nephropathy cervical ribs and eye problems. The presence of the posterior iliac horns is pathognomonic and have been observed in more than 80 per cent of cases. In this report, we present the first case of prenatal diagnosis of NPS by ultrasound. The possible kidney involvement, combined with other, milder, complications make the prenatal diagnosis of this syndrome worthwhile.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Gestational Age
  • Humans
  • Nail-Patella Syndrome / diagnostic imaging*
  • Ultrasonography, Prenatal*