Document Detail

The central nervous system in the Apert syndrome.
MedLine Citation:
PMID:  2405668     Owner:  NLM     Status:  MEDLINE    
In this paper, we present available central nervous system data from our series of patients with the Apert syndrome. Combining our own data with that available in the literature, 30 patients had malformations of the corpus callosum, the limbic structures, or both. Other frequent findings included megalencephaly (7 cases), gyral abnormalities (8 cases), encephalocele (4 cases), pyramidal tract abnormalities (2 cases), hypoplasia of cerebral white matter (4 cases), and heterotopic gray matter (2 cases). Progressive hydrocephalus seems to be uncommon and has frequently been confused with nonprogressive ventriculomegaly in the past. Psychometric evaluations, neurological findings, and neuropathologic reports from the literature are critically reviewed. It is clear that a significant number of patients with the Apert syndrome are mentally retarded. It is suggested that malformations of the central nervous system may be responsible for most cases.
M M Cohen; S Kreiborg
Related Documents :
3331518 - Advances in biomedical sensor technology: a review of the 1985 patent literature.
1807698 - Showcase, a veterinary case authoring and presentation system.
19656708 - Articular aspergillosis: case report and review of the literature.
23119548 - Oral submucous fibrosis in paediatric age group.
22693548 - Leishmaniasis worldwide and global estimates of its incidence.
3741268 - Chondrosarcoma arising in the nasal septum: a case report.
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  35     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1990 Jan 
Date Detail:
Created Date:  1990-03-09     Completed Date:  1990-03-09     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  36-45     Citation Subset:  IM    
Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Acrocephalosyndactylia / complications,  genetics*
Brain / abnormalities*
Corpus Callosum / abnormalities
Intelligence Tests
Mental Retardation
Skull / abnormalities

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Urinary incontinence in the elderly.
Next Document:  Aberrant bronchi and cardiovascular anomalies.