Linked Life Data

6623243

Source:http://linkedlifedata.com/resource/pubmed/id/6623243

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
15
pubmed:dateCreated
1983-11-23
pubmed:abstractText
Osteogenesis imperfecta (OI) is one of the most important inherited skeletal dysplasias. Clinical, radiographic and genetic investigations have been undertaken in a series of 153 South African patients from 84 separate families. A further 60 relatives in whom a definite diagnosis could be made were not available for examination. Seventy-nine patients from 39 families had type I OI (mild skeletal fragility, blue sclerae, autosomal dominant inheritance). The orthopaedic complications were mild and stature was relatively normal. Only 26 patients had experienced more than 10 fractures. Trunk shortening, often with mild kyphoscoliosis, was present in 11 patients. One girl was paraplegic, but none of the other patients had evidence of spinal cord compression. Persistent backache was troublesome in 4 cases. Two of the patients were chair-bound and 9 used crutches or wore calipers. Sixteen patients (sporadic cases) had type II OI (lethal in the perinatal period, autosomal recessive inheritance). The orthopaedic importance of this form of OI lies in its differentiation from other types for the purposes of prognostication and planning of long-term management. Twenty-one patients from 14 families had type III OI (severe fracturing and deformity, white sclerae, autosomal recessive inheritance). Orthopaedic complications predominated. Although only 6 of the 21 patients were adults, 16 were dwarfed, 14 had experienced more than 20 fractures and 19 had significant limb bowing. Seven were chair-bound and 9 walked with crutches or calipers.(ABSTRACT TRUNCATED AT 250 WORDS)
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0256-9574
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
64
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
565-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1983
pubmed:articleTitle
Skeletal complications in osteogenesis imperfecta. A review of 153 South African patients.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't