Linked Life Data

6331794

Source:http://linkedlifedata.com/resource/pubmed/id/6331794

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1984-9-10
pubmed:abstractText
Acro-coxo-mesomelic dwarfism seems to be a new autosomal recessive entity, one compatible with survival. This severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine. Other malformations are clubhand and foot, short malformed fingers, and reduced articular mobility of elbows and hips with radial and femoral dislocations. Skeletal X-rays show the following: delayed bone age; mesomelic shortening of the limbs with cubitus brevus, radius curvus, and mostly fibula agenesis; severe acromelic deformities with clinodactyly of the IIIrd, IVth, and Vth digits and brachyrhizophalangia of the IInd and Vth digits. Brachymetacarpia is diffuse, with a "squashed candle" appearance. The IInd metacarpals and the proximal phalanx of the Vth digits have a peculiar "butterfly wings" appearance. The toes are shortened with a "drumstick" appearance and phalangeal hypoplasia, mostly of the midphalanges; hip dislocation and dysplasia (coxomelic), with hypoplasia of the femoral head and a coxa vara cylindric neck.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0003-3995
pubmed:author
pubmed:issnType
Print
pubmed:volume
27
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
83-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1984
pubmed:articleTitle
[Acro-coxo-mesomelic dwarfism: a new variety of autosomal recessive dwarfism].
pubmed:publicationType
Journal Article, English Abstract, Case Reports