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Medientyp: E-Artikel Titel: Temple–Baraitser syndrome: A rare and possibly unrecognized condition Beteiligte: Jacquinet, Adeline; Gérard, Marion; Gabbett, Michael T.; Rausin, Léon; Misson, Jean‐Paul; Menten, Björn; Mortier, Geert; Van Maldergem, Lionel; Verloes, Alain; Debray, François‐Guillaume Erschienen: Wiley, 2010 Erschienen in: American Journal of Medical Genetics Part A Sprache: Englisch DOI: 10.1002/ajmg.a.33574 ISSN: 1552-4825; 1552-4833 Schlagwörter: Genetics (clinical) ; Genetics Entstehung: Anmerkungen: Beschreibung: <jats:title>Abstract</jats:title><jats:p>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.</jats:p>