| Cardio-facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations. | |
| | |
MedLine Citation:
|
PMID: 20859831 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Cardio-facio-cutaneous (CFC) syndrome is a developmental disorder causing mental retardation and multiple congenital anomalies, including craniofacial, ectodermal, cardiac and musculoskeletal defects. Mutation of several genes in the RAS/MAPK (mitogen activated protein kinase) signaling pathway, most commonly BRAF, results in CFC syndrome. In this study, we report 3 new patients with CFC syndrome caused by mutation of BRAF. These patients differed in neurological impairment, craniofacial features and cardiac defects, while they shared relatively similar ectodermal and skeletal anomalies. They also displayed some overlapping features with Costello syndrome, another RAS/MAPK pathway disorder. Our findings highlight the clinical variability of CFC syndrome, with respect to severity and pattern of the affected organs, as well as the phenotypic overlap with the Costello syndrome. |
| | |
Authors:
|
E Demir; G Mancano; M G Pomponi; A Ozcelik; Kivilcım Gucuyener; G Neri |
Publication Detail:
|
Type: Case Reports; Journal Article Date: 2010-09-21 |
Journal Detail:
|
Title: Neuropediatrics Volume: 41 ISSN: 1439-1899 ISO Abbreviation: Neuropediatrics Publication Date: 2010 Jun |
Date Detail:
|
Created Date: 2010-09-22 Completed Date: 2011-01-11 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 8101187 Medline TA: Neuropediatrics Country: Germany |
Other Details:
|
Languages: eng Pagination: 127-31 Citation Subset: IM |
Copyright Information:
|
© Georg Thieme Verlag KG Stuttgart · New York. |
Affiliation:
|
Gazi University, School of Medicine, Department of Child Neurology, Ankara, Turkey. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
diagnosis,
genetics*,
pathology Adolescent Child Child, Preschool Craniofacial Abnormalities / diagnosis, genetics*, therapy Diagnosis, Differential Female Humans Proto-Oncogene Proteins B-raf / genetics* Skin Abnormalities / diagnosis, genetics*, pathology |
| Chemical | |
Reg. No./Substance:
|
EC 2.7.1.37/BRAF protein, human; EC 2.7.11.1/Proto-Oncogene Proteins B-raf |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Quality of life in parents of children with cerebral palsy: is it influenced by the child's behaviou...
Next Document: A new nonsense mutation of the IGHMBP2 gene responsible for the first case of SMARD1 in a Sardinian ...