Temple-Baraitser syndrome: a rare and possibly unrecognized condition.
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.
Jacquinet
Adeline
A
Center for Human Genetics, CHU & University of Liège, Liège, Belgium.
Gérard
Marion
M
Gabbett
Michael T
MT
Rausin
Léon
L
Misson
Jean-Paul
JP
Menten
Björn
B
Mortier
Geert
G
Van Maldergem
Lionel
L
Verloes
Alain
A
Debray
François-Guillaume
FG
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*