Document Detail

Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome.
MedLine Citation:
PMID:  11477607     Owner:  NLM     Status:  MEDLINE    
Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) constitutes a distinct entity characterized by prenatal overgrowth, macrosomia, hemihypertrophy, macrocephaly, nonobstructive hydrocephaly, frontal bossing, hypotonia, developmental delay, generalized or facial capillary malformation with upper philtral nevus flammeus and cutis marmorata, joint hypermobility, loose skin, toe syndactyly, and postaxial polydactyly. All but one of the cases reported previously had benign clinical courses without showing an increased risk of early infant death. We describe three additional cases with poor clinical outcomes including severe postnatal growth failure, intractable cardiac arrhythmia in two cases, and sudden infant death in two cases. Arrhythmia has not been described previously as one of the symptoms of M-CMCT. Patients with M-CMTC associated with severe postnatal growth failure and arrhythmia may constitute a distinct clinical subtype of M-CMTC with an increased risk of life-threatening episodes or sudden death. Recognizing this clinical subtype of M-CMTC is important to prevent these serious potential complications.
S Yano; Y Watanabe
Related Documents :
10921727 - Heterotopic cardiac transplantation and batista operation.
1304617 - A retrospective study on delirium type.
18045487 - Identifying the determinants of premature mortality in russia: overcoming a methodologi...
9804657 - Poor recovery of mitochondrial redox state in ca1 after transient forebrain ischemia in...
9369827 - Amniotic fluid cytokines (interleukin-6, tumor necrosis factor-alpha, interleukin-1 bet...
11817857 - Scabies in free-ranging mountain gorillas (gorilla beringei beringei) in bwindi impenet...
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  102     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2001 Aug 
Date Detail:
Created Date:  2001-07-30     Completed Date:  2001-08-16     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  149-52     Citation Subset:  IM    
Copyright Information:
Copyright 2001 Wiley-Liss, Inc.
Division of Medical Genetics Department of Pediatrics, Childrens Hospital Los Angeles and University of Southern California School of Medicine, Los Angeles, California 90027, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Abnormalities, Multiple / genetics,  pathology*
Arrhythmias, Cardiac / etiology*
Craniofacial Abnormalities* / complications
Growth Disorders / etiology
Skin Abnormalities* / complications
Sudden Infant Death / etiology*
Syndactyly / complications
Telangiectasis* / complications

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis.
Next Document:  Severe mental retardation, short stature, facial anomalies, joint laxity, and dislocations in two si...