Temple-Baraitser syndrome: a rare and possibly unrecognized condition. Jacquinet, A., Gérard, M., Gabbett, M. T, Rausin, L., Misson, J. P., Menten, B., Mortier, G., Maldergem, L. V., Verloes, A., & Debray, F. G. American journal of medical genetics. Part A, 152A(9):2322--6, September, 2010.
Temple-Baraitser syndrome: a rare and possibly unrecognized condition. [link]Paper  abstract   bibtex   
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.
@article{ Jacquinet2010,
  author = {Adeline Jacquinet and Marion Gérard and Michael T Gabbett and Léon Rausin and Jean Paul Misson and Björn Menten and Geert Mortier and Lionel Van Maldergem and Alain Verloes and Fraņcois Guillaume Debray},
  title = {Temple-Baraitser syndrome: a rare and possibly unrecognized condition.},
  journal = {American journal of medical genetics. Part A},
  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.},
  issn = {1552-4833},
  month = {September},
  pages = {2322--6},
  volume = {152A},
  number = {9},
  url = {http://www.ncbi.nlm.nih.gov/pubmed/20683999},
  year = {2010}
}
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