Temple-Baraitser syndrome: A rare and possibly unrecognized condition

Jacquinet, Adeline, Gérard, Marion, Gabbett, Michael T., Rausin, Léon, Misson, Jean-Paul, Menten, Björn, Mortier, Geert, Van Maldergem, Lionel, Verloes, Alain and Debray, François-Guillaume (2010) Temple-Baraitser syndrome: A rare and possibly unrecognized condition. American Journal of Medical Genetics, Part A, 152A 9: 2322-2326. doi:10.1002/ajmg.a.33574


Author Jacquinet, Adeline
Gérard, Marion
Gabbett, Michael T.
Rausin, Léon
Misson, Jean-Paul
Menten, Björn
Mortier, Geert
Van Maldergem, Lionel
Verloes, Alain
Debray, François-Guillaume
Title Temple-Baraitser syndrome: A rare and possibly unrecognized condition
Journal name American Journal of Medical Genetics, Part A   Check publisher's open access policy
ISSN 1552-4825
1552-4833
Publication date 2010-09
Sub-type Article (original research)
DOI 10.1002/ajmg.a.33574
Volume 152A
Issue 9
Start page 2322
End page 2326
Total pages 5
Place of publication Hoboken, NJ, United States
Publisher John Wiley & Sons
Collection year 2011
Language eng
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. © 2010 Wiley-Liss, Inc.
Keyword Temple-Baraitser syndrome
Nails hypoplasia
Thumbs anomalies
Hallux anomalies
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Published under Clinical Reports

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2011 Collection
School of Medicine Publications
 
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Created: Sun, 19 Sep 2010, 00:07:52 EST