title: 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.
authors: Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California, USA.
authors: Joseph J
authors: JJ
authors: Shen
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology; D000293:Adolescent; D000328:Adult; D000818:Animals; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging* / Q000473:pathology; D002658:Developmental Disabilities; D005260:Female; D006214:Hallux / Q000002:abnormalities* / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000000981:diagnostic imaging* / Q000473:pathology; D009264:Nails, Malformed / Q000000981:diagnostic imaging* / Q000473:pathology; D011859:Radiography; D012640:Seizures / Q000000981:diagnostic imaging / Q000473:pathology*; D013933:Thumb / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology
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