Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
1988-10-13
|
| pubmed:abstractText |
We report a family in which Opitz-Frias G syndrome is expressed across 4 generations. The propositus displays hypertelorism, low grade hypospadias, cleft palate and lips and cleft larynx, making the diagnosis of G syndrome very likely. A cousin of his mother discloses similar clefts, vulviform hypospadias, anal imperforation and mental retardation. His clinical appearance fits perfectly the diagnosis of BBB syndrome. A nephew shows ambiguous genitalia and hypertelorism. Authors suggest the lumping of the BBB and the G syndrome.
|
| pubmed:language |
fre
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
0021-7743
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
36
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
257-64
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:3411306-Abnormalities, Multiple,
pubmed-meshheading:3411306-Adolescent,
pubmed-meshheading:3411306-Adult,
pubmed-meshheading:3411306-Bone Diseases, Developmental,
pubmed-meshheading:3411306-Child, Preschool,
pubmed-meshheading:3411306-Female,
pubmed-meshheading:3411306-Humans,
pubmed-meshheading:3411306-Hypertelorism,
pubmed-meshheading:3411306-Hypospadias,
pubmed-meshheading:3411306-Male,
pubmed-meshheading:3411306-Pedigree,
pubmed-meshheading:3411306-Syndrome
|
| pubmed:year |
1988
|
| pubmed:articleTitle |
[Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)].
|
| pubmed:affiliation |
Clinique de Génétique Médicale, Hôpital Necker-Enfants Malades, Paris.
|
| pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
|