Linked Life Data

6859093

Source:http://linkedlifedata.com/resource/pubmed/id/6859093

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1983-7-29
pubmed:abstractText
Two siblings, one a male pseudohermaphrodite and the other female, died on the first day of life. In both instances pregnancy was complicated by polyhydramnios. At autopsy each was found to have multiple abnormalities, some concordant, others discordant. The concordant ones were hypoplastic left-heart complex, absent pulmonary lobation, polydactyly, bilateral talipes, and, on microscopic examination, some large atypical cells in the pancreatic islets. Chromosome cultures failed to grow. As far as is known parents were unrelated. Autosomal recessive inheritance is considered a possible cause, and the infants are thought to have the most severe form of the so-called Smith-Lemli-Opitz (RSH) Syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
423-8
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1983
pubmed:articleTitle
Brief clinical report: familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith-Lemli-Opitz (RSH) syndrome.
pubmed:publicationType
Journal Article, Case Reports