Linked Life Data

665725

Source:http://linkedlifedata.com/resource/pubmed/id/665725

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1978-9-1
pubmed:abstractText
A brother and sister presented with an uncommon malformation syndrome consisting of severe midface hypoplasia, congenital heart defect, hydronephrosis, clubfeet, hypertrichosis, hypoplasia of dermal ridges, and radiographic skeletal anomalies in the skull, hands and feet. The boy died shortly after birth; the girl lived for 16 months and exhibited severe failure to thrive, epilepsy, diminished growth, and profound motor and intellectual retardation. Additional observations include postaxial hexadactyly in the girl, and mesomelic brachymelia and peculiar, narrow fingernails in the boy. The occurrence of the syndrome in two sibs of different sex suggests autosomal-recessive inheritance.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:volume
1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
361-75
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1978
pubmed:articleTitle
A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs.
pubmed:publicationType
Journal Article, Case Reports