Linked Life Data

6157584

Source:http://linkedlifedata.com/resource/pubmed/id/6157584

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1980-11-25
pubmed:abstractText
The clinical, laboratory, histologic and autopsy findings are reported from a live-born male infant with severe congenital skin defects (CSD) who survived for 2 days. The family history revealed consanguinity of the (Turkish) parents. The patient was compared with 10 cases from the literature with the most severe form of CSD. The combination of severe CSD, parental consanguinity and gastrointestinal atresia was found in 3 of these 11 cases, including our own patient. Differentiation from an atypical form of epidermolysis bullosa, complicated by pyloric atresia, is difficult. The mechanism of the (prenatally detected) elevated amniotic fluid alpha 1-fetoprotein (AFP) level is discussed. The finding of a balanced 13q14q chromosome translocation in the infant and his mother is considered a coincidence.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0301-2115
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
381-8
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1980
pubmed:articleTitle
Severe congenital skin defects in a newborn. Case report and relevance of several obstetrical parameters.
pubmed:publicationType
Journal Article, Case Reports