Linked Life Data

11050627

Source:http://linkedlifedata.com/resource/pubmed/id/11050627

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2000-11-1
pubmed:abstractText
Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia) is a condition that includes abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). Seven patients with this condition have been documented since 1979. We now report a male with Gomez-Lopez-Hernandez syndrome who, at the age of 19 years, is the oldest patient identified to date. He has been followed since birth, allowing us to report on the progression of his physical findings and psychiatric problems including hyperactivity, depression, self-injurious behavior and bipolar disorder. In addition, he has short stature and growth hormone deficiency.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0148-7299
pubmed:author
pubmed:copyrightInfo
Copyright 2000 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
23
pubmed:volume
94
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
405-8
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Gomez-Lopez-Hernandez syndrome: expansion of the phenotype.
pubmed:affiliation
Divisions of Genetics, Tufts University School of Medicine, Floating Hospital for Children at New England Medical Center, Boston, Massachusetts 02111, USA.
pubmed:publicationType
Journal Article, Case Reports