| Cornelia de lange syndrome. | |
| | |
MedLine Citation:
|
PMID: 20300288 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
|
BACKGROUND: Cornelia de Lange syndrome (CDLS) is a rare multiple congenital anomaly syndrome characterized by a distinctive facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, and hirsutism. CASE: Here for the first time a case of CDLS from Iran, a 15-week-old male infant who was refereed as a case of multiple congenital anomalies. Clinical investigation showed that the child was a case of CDLS. CONCLUSION: This is the first case report with CDLS in Iran. |
| | |
Authors:
|
Naeimeh Tayebi |
Related Documents
:
|
9693548 - The elbow in syndromic craniosynostosis. 535268 - Sacral agenesis with associated anomalies (caudal regression syndrome): autopsy case re... 7408348 - Bone scan-demonstrated urinary tract abnormalities in a patient with rubinstein-taybi s... 3068988 - Meckel syndrome with polysplenia: case report and review of the literature. 12111088 - Primary antiphospholipid syndrome presenting with abdominal angina and splenic infarction. 9385368 - Jackson-weiss syndrome: identification of two novel fgfr2 missense mutations shared wit... |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Indian journal of human genetics Volume: 14 ISSN: 0971-6866 ISO Abbreviation: Indian J Hum Genet Publication Date: 2008 Jan |
Date Detail:
|
Created Date: 2010-03-19 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 101223637 Medline TA: Indian J Hum Genet Country: India |
Other Details:
|
Languages: eng Pagination: 23-6 Citation Subset: - |
Affiliation:
|
Medical Doctor-Genetic Counselor, Genetic Research Center-Shahid Fiazbakhsh Rehabilitation Comprehensive Center-Yazd Welfare organization. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: A case of acute myeloid leukemia-M2 with trisomy 4 in addition to t(8;21).
Next Document: t-plasminogen activator inhibitor-1 polymorphism in idiopathic pulmonary arterial hypertension.