Linked Life Data

12119212

Source:http://linkedlifedata.com/resource/pubmed/id/12119212

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2002-7-16
pubmed:abstractText
In 1954, Papillon-Léage and Psaume described a dominant, X-linked condition which they named oro-facio-digital (OFD). This condition was split into at least nine syndromes, the more common being OFD I. We report a girl with OFD I syndrome followed up for 23 years. Clinical examination showed cleft palate, median cleft lip, multiple oral frenulae, lobulated tongue and brachydactyly. There was no mental retardation. At 19 years of age, renal insufficiency appeared. A renal transplantation was performed. The parents were unaffected. An older brother had hydrocephaly, bilateral optic atrophy and mental retardation. A younger sister is unaffected. A mutation, an insertion of a G leading to a frameshift in the OFD 1 gene, was identified in this patient.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0003-3995
pubmed:author
pubmed:issnType
Print
pubmed:volume
45
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
59-62
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:articleTitle
Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene.
pubmed:affiliation
Service de Génétique Médicale, Hôpital de Hautepierre, Avenue Molière, 67098 cedex, Strasbourg, France. claude.stoll@chru-strasbourg.fr
pubmed:publicationType
Journal Article, Case Reports