Reference : Temple-Baraitser syndrome: a rare and possibly unrecognized condition.
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/82481
Temple-Baraitser syndrome: a rare and possibly unrecognized condition.
English
Jacquinet, Adeline [Centre Hospitalier Universitaire de Liège - CHU > > Pédiatrie >]
Gerard, Marion [> > > >]
Gabbett, Michael T [> > > >]
Rausin, Leon [> > > >]
Misson, Jean-Paul [Centre Hospitalier Universitaire de Liège - CHU > > Pédiatrie CHR >]
Menten, Bjorn [> > > >]
Mortier, Geert [> > > >]
Van Maldergem, Lionel [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Verloes, Alain [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Debray, François-Guillaume mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
2010
American Journal of Medical Genetics. Part A
Wiley Liss, Inc.
152A
9
2322-6
Yes (verified by ORBi)
International
1552-4825
1552-4833
Hoboken
NJ
[en] Abnormalities, Multiple ; Adult ; Child ; Family ; Female ; Humans ; Infant ; Inheritance Patterns ; Male ; Mental Retardation ; Middle Aged ; Rare Diseases/diagnosis/genetics ; Thumb/abnormalities ; Toes/abnormalities
[en] Temple-Baraitser syndrome, previously described in two unrelated patients, is the association of severe mental retardation and abnormal thumbs and great toes. We report two additional unrelated patients with Temple-Baraitser syndrome, review clinical and radiological features of previously reported cases and discuss mode of inheritance. Patients share a consistent pattern of anomalies: hypo or aplasia of the thumb and great toe nails and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. All patients were born to unrelated parents and occurred as a single occurrence in multiple sibships, suggesting sporadic inheritance from a de novo mutation mechanism. Comparative genomic hybridization in Patients 1, 2 and 3 did not reveal any copy number variations. We confirm that Temple-Baraitser syndrome represents a distinct syndrome, probably unrecognized, possibly caused by a de novo mutation in a not yet identified gene.
http://hdl.handle.net/2268/82481
10.1002/ajmg.a.33574

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