Linked Life Data

9799303

Source:http://linkedlifedata.com/resource/pubmed/id/9799303

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
1999-1-5
pubmed:abstractText
We report a boy with mesomelic dysplasia of the forearms, skin dimples, mildly bowed tibiae, metatarsus adductus, congenital cataracts, sensorineural hearing loss, hypotonia, and mildly dysmorphic features. Prominent radiologic findings include bony spurs of the diaphyses of the radii bilaterally with angulated, significantly shortened radii and ulnae and elbow dislocations. Changes in the lower extremities are confined to bowing of the tibiae and elongation of the thinned fibulae. To our knowledge this case represents a unique combination of findings not previously reported, although some resemblance was found to a patient reported by Kozlowski et al. in 1993.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0301-0449
pubmed:author
pubmed:issnType
Print
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
794-7
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Mesomelic shortening of the upper extremities with spur formation and cutaneous dimpling.
pubmed:affiliation
Department of Medical Genetics and Pediatrics Cedars-Sinai Medical Center University of California, Los Angeles Los Angeles, California USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports