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: email@example.com
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Received June 11, 2014
Accepted November 25, 2014