title: Temple-Baraitser syndrome: a rare and possibly unrecognized condition.
abstract: 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.
authors.affiliation: Center for Human Genetics, CHU & University of Liège, Liège, Belgium.
authors.forename: Adeline
authors.initials: A
authors.lastname: Jacquinet
authors.forename: Marion
authors.initials: M
authors.lastname: Gérard
authors.forename: Michael T
authors.initials: MT
authors.lastname: Gabbett
authors.forename: Léon
authors.initials: L
authors.lastname: Rausin
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Misson
authors.forename: Björn
authors.initials: B
authors.lastname: Menten
authors.forename: Geert
authors.initials: G
authors.lastname: Mortier
authors.forename: Lionel
authors.initials: L
authors.lastname: Van Maldergem
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
authors.forename: François-Guillaume
authors.initials: FG
authors.lastname: Debray
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D002648:Child; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D040582:Inheritance Patterns; D008607:Intellectual Disability; D008297:Male; D008875:Middle Aged; D035583:Rare Diseases / Q000175:diagnosis* / Q000235:genetics; D013933:Thumb / Q000002:abnormalities*; D014034:Toes / Q000002:abnormalities*