Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
1998-11-25
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0197-3851
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
854-6
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Ultrasound prenatal diagnosis of the Nail-Patella syndrome.
pubmed:affiliation
Department of Maternal-Fetal Medicine, Boston Medical Center, MA, USA.
pubmed:publicationType
Journal Article, Case Reports