| The central nervous system in the Apert syndrome. | |
| | |
MedLine Citation:
|
PMID: 2405668 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
M M Cohen; S Kreiborg |
Related Documents
:
|
12577108 - Scleroderma, stroke, optic neuropathy: a rare association. 23119548 - Oral submucous fibrosis in paediatric age group. 21485738 - Labial fusion first diagnosed during pregnancy with voiding difficulty and its manageme... 8869718 - A systemic "dumb-bell" haemangiopericytoma. 1116058 - Gastrocolic fistula complicating benign gastric ulcer: case report and review of litera... 9725968 - Skin necrosis and venous thrombosis from subcutaneous injection of charcoal lighter flu... |
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 |
Affiliation:
|
Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Acrocephalosyndactylia
/
complications,
genetics* Adolescent Adult Brain / abnormalities* Child Corpus Callosum / abnormalities Humans 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.