| A patient with Schinzel-Giedion syndrome and a review of 20 patients. | |
| | |
MedLine Citation:
|
PMID: 7662999 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
The Schinzel-Giedion syndrome is characterized by severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations. So far, 20 patients have been reported. This is the first report of the syndrome demonstrated in Oriental patients. In surviving patients, severe growth and developmental deficiency is a common finding. |
| | |
Authors:
|
N Okamoto; M Takeuchi; H Kitajima; S Hosokawa |
Related Documents
:
|
18343329 - Burning mouth syndrome: recognition, understanding, and management. 19294559 - Distinct neutrophil subpopulations phenotype by flow cytometry in myelodysplastic syndr... 3982899 - Progressive varicella in three patients with wiskott-aldrich syndrome: treatment with a... 9147179 - Squalor syndrome and psychogeriatric admissions. 8912609 - Grouped papules in hurler-scheie syndrome. 1082749 - Cryoimmunoglobulinemia in felty's syndrome. 12018979 - Treatment of chronic fatigue syndrome by dietary supplementation with omega-3 fatty aci... 3497719 - The multiple manifestations of the encephalocraniocutaneous lipomatosis syndrome. 19796779 - Preliminary report: a serious link between adiponectin levels and metabolic syndrome in... |
Publication Detail:
|
Type: Case Reports; Journal Article; Review |
Journal Detail:
|
Title: The Japanese journal of human genetics Volume: 40 ISSN: 0916-8478 ISO Abbreviation: Jpn. J. Hum. Genet. Publication Date: 1995 Jun |
Date Detail:
|
Created Date: 1995-10-10 Completed Date: 1995-10-10 Revised Date: 2005-11-16 |
Medline Journal Info:
|
Nlm Unique ID: 9213239 Medline TA: Jpn J Hum Genet Country: JAPAN |
Other Details:
|
Languages: eng Pagination: 189-93 Citation Subset: IM |
Affiliation:
|
Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
diagnosis* Bone and Bones / abnormalities* Face / abnormalities* Female Humans Infant, Newborn Skull / abnormalities* Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Molecular analysis of extracellular-superoxide dismutase gene associated with high level in serum.
Next Document: C to T transition at the first nucleotide of codon 63 of the beta-globin gene corresponding to hemog...