Linked Life Data

263433

Source:http://linkedlifedata.com/resource/pubmed/id/263433

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1984-1-26
pubmed:abstractText
Hypertelorism and hypospadias are described in four unrelated boys; bilateral cleft lip and cleft palate were also present in two of the boys and mild mental retardation in another. These features are compatible with both the G and BBB syndromes. When present, laryngotracheoesophageal anomalies or respiratory and swallowing difficulties are characteristic features of the G syndrome; otherwise facial features may be useful in distinguishing the G and BBB syndromes. Cases 1 and 2 had anteverted nares and a broad and flat nasal bridge, and Case 1 had shortened palpebral fissures, all consistent with the G syndrome. In contrast, Cases 3 and 4 had a high and broad nasal bridge as previously described in the BBB syndrome. The father of Case 1 had mild hypertelorism and first-degree hypospadias, demonstrating autosomal dominant inheritance in the G syndrome. The mothers of Cases 2, 3, and 4 all had mild hypertelorism consistent with autosomal dominant inheritance and partial male-sex limitation, as previously proposed for both the G and BBB syndromes.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:volume
2
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
131-44
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1978
pubmed:articleTitle
The G and BBB syndromes: case presentations, genetics, and nosology.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't