Document Detail


Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma.
MedLine Citation:
PMID:  12072801     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe a boy presenting with macrosomy, body asymmetry, cutis marmorata and tall stature who developed a retinoblastoma. Although he does not have macrocephaly, his clinical picture is compatible with the diagnosis of Macrocephaly-cutis marmorata telangiectatica congenita syndrome (M-CMTC). Interestingly, retinoblastoma is not generally associated with overgrowth syndromes, and its occurrence in this patient suggests that M-CMTC is also a tumour-prone syndrome.
Authors:
Ida V D Schwartz; Têmis M Felix; Mariluce Riegel; Lavínia Schüler-Faccini
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  11     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2002 Jul 
Date Detail:
Created Date:  2002-06-19     Completed Date:  2002-12-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  199-202     Citation Subset:  IM    
Affiliation:
Clinical Hospital of Porto Alegre, Medical Genetics Service, Porto Alegre, Brazil.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / pathology*
Child, Preschool
Eye Neoplasms / pathology*
Humans
Male
Retinoblastoma / pathology*
Telangiectasis / pathology*

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