Linked Life Data

12476457

Source:http://linkedlifedata.com/resource/pubmed/id/12476457

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2002-12-11
pubmed:abstractText
A brother and a sister affected with brachyolmia (short trunk) are reported. Their radiological findings are compatible with brachyolmia, Hobaek type, which is characterized by platyspondyly, horizontal acetabular roof, short femoral neck, and vertical "mixed lucent and dense" striation pattern in the metaphyses of large long bones. Despite normal birth weight and length, the platyspondyly is present at infancy, but clinically the condition may not be noticeable until late childhood or early puberty, when stunted growth becomes apparent. Beyond puberty, the patients are short in stature, mainly due to a short trunk with decrease upper and lower body segment ratio. Brachyolmia type Hobaek is a relatively benign condition. It may cause a mild and nonspecific backache that usually is not debilitating. The inheritance mode is apparently autosomal recessive.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1552-4825
pubmed:author
pubmed:copyrightInfo
Copyright 2002 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
116A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
80-4
pubmed:dateRevised
2008-5-21
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Two sibs with brachyolmia type Hobaek: five year follow-up through puberty.
pubmed:affiliation
Department of Pediatrics, SUNY Upstate Medical University, Syracuse, New York 13210, USA. hooj@upstate.edu
pubmed:publicationType
Journal Article