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Two cases of Temple–Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes

Shen, Joseph J.

doi: 10.1097/MCD.0000000000000072
Original Articles

This study reports on two individuals with Temple–Baraitser syndrome, manifesting typical hallux and pollex findings, global developmental delay, and seizures. In the five previous cases identified to date, consistent craniofacial and osseous characteristics have been observed. The children described herein exhibit minor differences within this phenotype and are older, highlighting the phenotypic variability and natural history of the clinical and radiographic findings.

Medical Genetics and Metabolism, Valley Children’s Hospital, Madera, California, USA

Correspondence to Joseph Shen, MD, PhD, Medical Genetics and Metabolism, Valley Childrens’ Hospital, 9300 Valley Childrens Place, GE21, Madera, CA 93636-8762, USA Tel: +1 559 353 6400; fax: +1 559 353 8543; e-mail: jshen@childrenscentralcal.org

This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License, where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially. http://creativecommons.org/licenses/by-nc-nd/3.0.

Received June 11, 2014

Accepted November 25, 2014

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