Linked Life Data

15624371

Source:http://linkedlifedata.com/resource/pubmed/id/15624371

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2004-12-30
pubmed:abstractText
The Marshall-Smith syndrome (MSS) is rare congenital disorder, characterized by a triad of orofacial dysmorphism, failure to thrive, and accelerated osseous maturation. An 8-year-old boy with MSS associated with congenital glaucoma, corneal erosion, laryngomalacia, glossoptosis, choanal stenoses, bilateral peripheral hearing defect, ventriculomegaly, congenital heart disease (atrial septal defect), chronic pulmonary disease, and scoliosis was reported. A tracheostomy with endotracheal tube insertion was performed for his difficult airway. He has longer survival time than those MSS patients hitherto reported. High-resolution chromosome banding and extensive metabolic investigation did not detect any abnormality, except for low blood levels of zinc and thyroxine. Besides, brain atrophy with hypoplastic cerebellum and brainstem, and bilateral hydronephrosis with hydroureter were detected by image studies.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1608-8115
pubmed:author
pubmed:issnType
Print
pubmed:volume
45
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
232-5
pubmed:meshHeading
pubmed:articleTitle
Long-term follow-up of Marshall-Smith syndrome: report of one case.
pubmed:affiliation
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, Taoyuan, Taiwan.
pubmed:publicationType
Journal Article, Case Reports