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

Authors:
Joseph J Shen

Clin Dysmorphol 2015 Apr;24(2):55-60

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

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.

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Source
http://dx.doi.org/10.1097/MCD.0000000000000072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4345968PMC
April 2015
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