| 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. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
pathology* Child, Preschool Eye Neoplasms / pathology* Humans Male Retinoblastoma / pathology* Telangiectasis / pathology* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: A second family with blepharo-naso-facial syndrome.
Next Document: Lethal non-rhizomelic dysplasia epiphysealis punctata.