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


ABSTRACT: 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.

SUBMITTER: Shen JJ 

PROVIDER: S-EPMC4345968 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature

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

Shen Joseph J JJ  

Clinical dysmorphology 20150401 2


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. ...[more]

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