Linked Life Data

3572700

Source:http://linkedlifedata.com/resource/pubmed/id/3572700

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1987-6-16
pubmed:abstractText
Epidermolysis bullosa letalis has been associated with congenital pyloric atresia in an autosomal recessive syndrome. This report documents the second occurrence in premature siblings. Our review indicates that it is a lethal condition with death due to the septic complications of epidermolysis bullosa letalis. Surgical management of pyloric atresia should be withheld until the severity of the epidermolysis is known. Skin biopsy to document the type of epidermolysis bullosa is imperative as only the letalis form is documented to be lethal. The risk for subsequent siblings is 25% and parents should undergo genetic counseling. Prenatal diagnosis of epidermolysis bullosa letalis can be made by fetoscopic skin biopsy. We suggest nonoperative management of pyloric atresia unless the skin disease is responsive to treatment.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0022-3468
pubmed:author
pubmed:issnType
Print
pubmed:volume
22
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
374-6
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
Congenital pyloric atresia and epidermolysis bullosa letalis in premature siblings.
pubmed:publicationType
Journal Article, Case Reports