Switch to
Predicate | Object |
---|---|
rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
|
pubmed:dateCreated |
1982-8-26
|
pubmed:abstractText |
Six families with arthrogryposis (congenital contractures) inherited in an X-linked recessive manner are reported. Family histories from a study of over 350 patients with congenital contractures of the joints (arthrogryposis) were reviewed and of these, three probands had family histories consistent with X-linked recessive inheritance. Three other families were recognized through correspondence. Three forms of X-linked recessively inherited arthrogryposis are described: (1) Severe lethal X-linked arthrogryposis with severe contractures scoliosis deformities, hypotonia, and death due to respiratory insufficiency within 3 months of birth (1 family); (2) Moderately severe X-linked arthrogryposis with severe contractures, ptosis, microphallus, cryptorchidism, inguinal hernias, and normal intelligence (2 families); and (3) Resolving X-linked arthrogryposis with mild to moderate contractures at birth which improve dramatically with time (2 families and 1 sporadic case).
|
pubmed:grant | |
pubmed:language |
eng
|
pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:status |
MEDLINE
|
pubmed:month |
Feb
|
pubmed:issn |
0009-9163
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
21
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
81-97
|
pubmed:dateRevised |
2010-11-18
|
pubmed:meshHeading |
pubmed-meshheading:7200838-Arthrogryposis,
pubmed-meshheading:7200838-Female,
pubmed-meshheading:7200838-Genes, Recessive,
pubmed-meshheading:7200838-Genetic Linkage,
pubmed-meshheading:7200838-Humans,
pubmed-meshheading:7200838-Infant,
pubmed-meshheading:7200838-Infant, Newborn,
pubmed-meshheading:7200838-Male,
pubmed-meshheading:7200838-Pedigree,
pubmed-meshheading:7200838-Phenotype,
pubmed-meshheading:7200838-Sex Chromosomes,
pubmed-meshheading:7200838-X Chromosome
|
pubmed:year |
1982
|
pubmed:articleTitle |
Three distinct types of X-linked arthrogryposis seen in 6 families.
|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|