Linked Life Data

14760276

Source:http://linkedlifedata.com/resource/pubmed/id/14760276

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2004-2-4
pubmed:databankReference
pubmed:abstractText
IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities; MIM 300290) is a multisystem disorder with a broad phenotype, which, if unrecognized, may result in major and possibly life-threatening complications. Initial clinical features overlap with those of Russell-Silver syndrome (RSS) and isolated growth hormone (GH) deficiency, conditions from which it must be distinguished. We report an Australian male with adrenal hypoplasia congenita (AHC) in association with IMAGe syndrome. The patient had intrauterine growth restriction (IUGR) and dysmorphic features comprising small, low-set ears, micrognathia, bilateral cryptorchidism, micropenis, and skeletal abnormalities. Signs of adrenal insufficiency occurred at aged 4.6 years. Our patient differs from those previously described by the late onset of adrenal insufficiency and the presence of GH deficiency. IMAGe is a complex syndrome involving dysmorphic features; disorders of growth, gonadal, and adrenal function; and skeletal abnormalities.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0022-3476
pubmed:author
pubmed:issnType
Print
pubmed:volume
144
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
274-7
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development.
pubmed:affiliation
Department of Endocrinology and Diabetes, Royal Children's Hospital, and Genetic Health Services Victoria, Murdoch Children's Research Institute, Parkville, Melbourne, Victoria, Australia.
pubmed:publicationType
Journal Article, Case Reports