Linked Life Data

15633176

Source:http://linkedlifedata.com/resource/pubmed/id/15633176

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2005-2-22
pubmed:abstractText
Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies. The syndrome was recently mapped to chromosome 5q31, but there is evidence for genetic heterogeneity, and no gene has been identified. We report a 5-year-old male with cataracts, ataxia, a progressive cerebellar atrophy, developmental delay, seizures, hypotonia, and a sensorimotor neuropathy consistent with many cases of MSS. He also had mild craniofacial dysmorphism consisting of hypertrichosis and synophrys, deep-set eyes with epicanthic folds, a flat philtrum, a high palate, short thumbs, and a wide sandal gap between the first and second toes. Skeletal findings included an increased kyphosis. We reviewed the literature on MSS to determine if craniofacial dysmorphism and the presence of neuropathy and/or myopathy would prove to be diagnostically useful in this phenotypically heterogeneous condition. The majority of cases of MSS do not have craniofacial dysmorphism, but other cases have been reported with features such as ptosis or a myopathic facies that are likely to reflect the underlying myopathic or neuromuscular processes in MSS.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1552-4825
pubmed:author
pubmed:copyrightInfo
(c) 2005 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
133A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
197-201
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Marinesco-Sjögren syndrome in a male with mild dysmorphism.
pubmed:affiliation
Department of Pediatrics, Division of Medical Genetics, University of California-San Francisco, 533 Parnassus Street, San Francisco, CA 94143-0748, USA. slavotia@peds.ucsf.edu
pubmed:publicationType
Journal Article, Review, Case Reports