rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
3
|
pubmed:dateCreated |
1995-2-9
|
pubmed:abstractText |
Apert's syndrome or acrocephalosyndactyly type I is an autosomal dominant craniosynostosis syndrome with abnormalities of the hands and feet. Most cases occur as new mutations. Mental retardation is frequent because of central nervous system abnormalities. A case of Apert's syndrome detected by antenatal ultrasound examination is reported by the authors.
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:status |
MEDLINE
|
pubmed:issn |
1015-8146
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:volume |
5
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
297-301
|
pubmed:dateRevised |
2006-7-6
|
pubmed:meshHeading |
pubmed-meshheading:7811431-Abortion, Eugenic,
pubmed-meshheading:7811431-Acrocephalosyndactylia,
pubmed-meshheading:7811431-Brain,
pubmed-meshheading:7811431-Female,
pubmed-meshheading:7811431-Humans,
pubmed-meshheading:7811431-Infant, Newborn,
pubmed-meshheading:7811431-Male,
pubmed-meshheading:7811431-Pregnancy,
pubmed-meshheading:7811431-Pregnancy Trimester, Third,
pubmed-meshheading:7811431-Ultrasonography, Prenatal
|
pubmed:year |
1994
|
pubmed:articleTitle |
Apert syndrome, an antenatal ultrasound detected case.
|
pubmed:affiliation |
Service de Pédiatrie et Génétique Médicale, CHU Morvan, Bres, France.
|
pubmed:publicationType |
Journal Article
|