Linked Life Data

15887278

Source:http://linkedlifedata.com/resource/pubmed/id/15887278

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2005-5-26
pubmed:databankReference
pubmed:abstractText
Autosomal recessive omodysplasia (ARO), a rare congenital skeletal dysplasia, is characterized by micromelia and craniofacial anomalies. Upper and lower limbs are affected in contrast to the dominant form in which the lower limbs are normal. Radiographic features include shortening and distal tapering of the humerus and femur, proximal radioulnar diastasis, and anterolateral radial head dislocation. We present a recurrence of ARO in a family, detected on prenatal ultrasound at 13 weeks of gestation. Chromosome analysis of the products of conception and the affected sibling showed a paternally-inherited paracentric inversion of 15q13 to q21.3. Due to similarities in the clinical phenotype between diastrophic dysplasia and this condition, testing for DTDST mutation was performed with no mutation detected.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1552-4825
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
135
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
324-7
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location.
pubmed:affiliation
Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia. tiong.tan@ghsv.org.au
pubmed:publicationType
Journal Article, Case Reports