Linked Life Data

3209682

Source:http://linkedlifedata.com/resource/pubmed/id/3209682

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1989-2-23
pubmed:abstractText
Holoprosencephaly (HPC) may be an isolated trait or may be associated with other craniofacial defects. As an isolated trait, HPC has been reported to be inherited as an autosomal recessive, while autosomal dominant inheritance has been reported for sequences or syndromes in which HPC occurs. This paper presents a family in which several people have variable combinations of craniofacial defects. The most severely affected relatives have HPC, while others have only mild facial dysmorphia and decreased bitemporal diameters. One relative has a single central incisor in the maxilla. The pattern of defects in this family is inherited as an autosomal dominant. Other families with the reported pattern of defects, including single central incisors as minimal manifestations, are cited. Because HPC is found only occasionally in the pattern of defects, the term DeMyer Sequence is proposed as a more appropriate designator than the more commonly used Holoprosencephaly Sequence.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0270-4145
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
199-204
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
Autosomal dominant inheritance of the DeMyer Sequence.
pubmed:affiliation
Scott and White Hospital, Temple, Texas.
pubmed:publicationType
Journal Article, Case Reports