Linked Life Data

21703082

Source:http://linkedlifedata.com/resource/pubmed/id/21703082

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2011-6-27
pubmed:abstractText
The purpose of this paper was to present the case of a 15-year-old female diagnosed with infantile Refsum disease (IRD) that presented with generalized enamel defects in the primary and permanent dentition. IRD is an inherited autosomal recessive disorder characterized by aberrant peroxisome function. IRD patients present with multiple clinical manifestations, including: retinitis pigmentosa; nystagmus; sensorineural hearing loss; mental and developmental delays; neuromotor defects; and cerebral ataxia. Craniofacial abnormalities reported include: high forehead; hypoplastic supraorbital ridges; epicanthal folds; midface hypoplasia; and large anterior fontanelle. At present, there is only one known report of dental anomaly associated with this syndrome. This represents the first known reported case in the pediatric dental literature.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
D
pubmed:status
MEDLINE
pubmed:issn
0164-1263
pubmed:author
pubmed:issnType
Print
pubmed:volume
33
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
266-70
pubmed:meshHeading
pubmed:articleTitle
Infantile refsum disease with enamel defects: a case report.
pubmed:affiliation
Division of Pediatric Dentistry, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
pubmed:publicationType
Journal Article, Case Reports