Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndrome.
Identifieur interne : 003525 ( PubMed/Curation ); précédent : 003524; suivant : 003526Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndrome.
Auteurs : M A M. Van Steensel [Pays-Bas] ; M. Van Geel ; C. Schrander-Stumpel ; P M Steijlen ; J C J M. VeraartSource :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 2007.
Descripteurs français
- KwdFr :
- Anasarque foeto-placentaire (diagnostic), Communications interventriculaires (diagnostic), Enfant d'âge préscolaire, Faciès, Facteurs de transcription (génétique), Facteurs de transcription Forkhead (génétique), Facteurs de transcription SOX-F, Femelle, Humains, Lymphoedème (), Lymphoedème (anatomopathologie), Lymphoedème (diagnostic), Phénotype, Protéines HMG (génétique), Récepteur-3 au facteur croissance endothéliale vasculaire (génétique), Syndrome.
- MESH :
- anatomopathologie : Lymphoedème.
- diagnostic : Anasarque foeto-placentaire, Communications interventriculaires, Lymphoedème.
- génétique : Facteurs de transcription, Facteurs de transcription Forkhead, Protéines HMG, Récepteur-3 au facteur croissance endothéliale vasculaire.
- Enfant d'âge préscolaire, Faciès, Facteurs de transcription SOX-F, Femelle, Humains, Lymphoedème, Phénotype, Syndrome.
English descriptors
- KwdEn :
- Child, Preschool, Facies, Female, Forkhead Transcription Factors (genetics), Heart Septal Defects, Ventricular (diagnosis), High Mobility Group Proteins (genetics), Humans, Hydrops Fetalis (diagnosis), Lymphedema (congenital), Lymphedema (diagnosis), Lymphedema (pathology), Phenotype, SOXF Transcription Factors, Syndrome, Transcription Factors (genetics), Vascular Endothelial Growth Factor Receptor-3 (genetics).
- MESH :
- chemical , genetics : Forkhead Transcription Factors, High Mobility Group Proteins, Transcription Factors, Vascular Endothelial Growth Factor Receptor-3.
- congenital : Lymphedema.
- diagnosis : Heart Septal Defects, Ventricular, Hydrops Fetalis, Lymphedema.
- pathology : Lymphedema.
- Child, Preschool, Facies, Female, Humans, Phenotype, SOXF Transcription Factors, Syndrome.
Abstract
We describe a Dutch girl with fetal hydrops, congenital lymphedema of the lower legs, complex congenital cardiac malformation, and a typical face with epicanthal folds. This particular combination of symptoms has been previously described by Irons and Bianchi in 1996. Our report confirms their observation and suggests that this particular constellation of symptoms may constitute a new syndrome. Molecular analysis confirms this statement by demonstrating absence of mutations in several genes known to be involved in syndromes with lymphedema.
DOI: 10.1002/ajmg.a.31949
PubMed: 17853470
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This particular combination of symptoms has been previously described by Irons and Bianchi in 1996. Our report confirms their observation and suggests that this particular constellation of symptoms may constitute a new syndrome. Molecular analysis confirms this statement by demonstrating absence of mutations in several genes known to be involved in syndromes with lymphedema.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">17853470</PMID><DateCreated><Year>2007</Year><Month>10</Month><Day>01</Day></DateCreated><DateCompleted><Year>2007</Year><Month>12</Month><Day>06</Day></DateCompleted><DateRevised><Year>2009</Year><Month>11</Month><Day>19</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">1552-4825</ISSN><JournalIssue CitedMedium="Print"><Volume>143A</Volume><Issue>20</Issue><PubDate><Year>2007</Year><Month>Oct</Month><Day>15</Day></PubDate></JournalIssue><Title>American journal of medical genetics. 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