Linked Life Data

7807364

Source:http://linkedlifedata.com/resource/pubmed/id/7807364

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
1995-2-2
pubmed:abstractText
Fryns syndrome is a rare autosomal recessive disorder characterized by diaphragmatic hernia and multiple anomalies. Almost all infants have died at birth, and survivors have had severe mental retardation. The authors report on a family in which three children had diaphragmatic hernia diagnosed prenatally. The first child died of severe pulmonary hypoplasia in the neonatal period. The second survived after diaphragmatic hernia repair, and was found to have Fryns syndrome based on the spectrum of associated anomalies and the family history. He has done well except for significant gastroesophageal reflux, mild developmental delay, and mild hypotonia. The third child's diaphragmatic hernia was diagnosed early during fetal life, and the parents chose to terminate the pregnancy. These cases illustrate the spectrum of Fryns syndrome and the importance of a family history in patients with congenital diaphragmatic hernia. This is the first report of survival of a patient with Fryns syndrome without severe mental retardation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0022-3468
pubmed:author
pubmed:issnType
Print
pubmed:volume
29
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1266-7
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Fryns syndrome: a rare familial cause of congenital diaphragmatic hernia.
pubmed:affiliation
Department of Surgery, McMaster University, Hamilton, Ontario.
pubmed:publicationType
Journal Article, Case Reports