Linked Life Data

15194947

Source:http://linkedlifedata.com/resource/pubmed/id/15194947

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2004-6-14
pubmed:abstractText
The spondyloepimetaphyseal dysplasias (SEMD) are a large, genetically heterogeneous group of disorders of variable severity, which are classified according to their clinical and radiological features. SEMD with multiple dislocations (Hall type) has been recently delineated (MIM 603546). This condition is characterized by striking epiphyseal and metaphyseal changes in the long bones, joint laxity, multiple dislocations of the large joints including the knees, and dysmorphic features including a short and upturned nose with a depressed nasal bridge and midface hypoplasia. An autosomal dominant mode of inheritance has been suggested. We report a further patient with a mild form of this condition and persistent inspiratory stridor secondary to laryngeal stenosis. This complication has been reported in previous reports and is certainly an important diagnostic feature.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0962-8827
pubmed:author
pubmed:issnType
Print
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
133-5
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?
pubmed:affiliation
Service de Génétique Médicale, Hôpital Jeanne de Flandre, Lille, France. m-holder@chru-lille.fr
pubmed:publicationType
Journal Article, Case Reports