Linked Life Data

15368495

Source:http://linkedlifedata.com/resource/pubmed/id/15368495

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2004-9-15
pubmed:abstractText
We report on six additional patients with macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC; MIM 602501) and review the literature. This syndrome is a multiple congenital anomalies/mental retardation and overgrowth disorder comprising macrocephaly, cutis marmorata, vascular marks of lip and/or philtrum, syndactyly, hemihypertrophy, CNS anomalies, and developmental delay. Based on the findings in our 6 patients and on 69 patients previously reported we listed the very frequent (observed in >75%), frequent (25-75%), and less frequent (>25%) components of the syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1552-4825
pubmed:author
pubmed:copyrightInfo
Copyright 2004 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
130A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
45-51
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review.
pubmed:affiliation
Department of Medical Genetics, Hospital Universitario La Paz, Madrid, Spain. plapunzina.hulp@salud.madrid.org
pubmed:publicationType
Journal Article, Review, Case Reports