Linked Life Data

9021018

Source:http://linkedlifedata.com/resource/pubmed/id/9021018

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1997-4-25
pubmed:abstractText
We describe a male patient with wide anterior fontanel and metopic suture, hypertelorism, down slanting palpebral fissures, bilateral iris coloboma, omphalocele, and bilateral absence of the diaphragm with herniation of abdominal organs causing pulmonary hypoplasia and death. Autopsy also showed intestinal malrotation. All findings in this case are consistent with those described as a newly recognized syndrome by Donnai and Barrow [1993]. Since the parents are first cousins, this case provides further evidence for the previously postulated autosomal recessive inheritance pattern. Follow-up on the patients and families reported by Donnai and Barrow [1993] also supports autosomal recessive inheritance.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:day
11
pubmed:volume
68
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
441-4
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance.
pubmed:affiliation
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Pennsylvania, USA.
pubmed:publicationType
Journal Article, Case Reports