Short Case ReportsTemple-Baraitser syndrome with KCNH1 Asn510Thr: a new case reportWang, Hui; Zhang, Xiaohua; Ding, HongfangAuthor Information Department of Pediatrics, Shengli Oil Field Central Hospital, Dongying, China Received 20 September 2019 Accepted 11 May 2020 Correspondence to Hongfang Ding, Shengli Oil Field Central Hospital, No. 31 Jinan Road, Dongying District, Dongying 257034, Shandong Province, China, Tel: +86 15006515712; e-mail: [email protected] Clinical Dysmorphology: January 2021 - Volume 30 - Issue 1 - p 27-31 doi: 10.1097/MCD.0000000000000345 Buy Metrics Abstract Temple-Baraitser syndrome (TMBTS; OMIM: 611816) is a rare developmental disorder characterized by severe mental retardation and anomalies of thumb and great toe with absence/hypoplasia of the nails. Here, we report an additional patient with TMBTS, review clinical and radiological features of previously reported cases and discuss mode of inheritance. The patient exhibited a pattern of anomalies: mild dysmorphic facial features with a wide open mouth, a thick vermilion border of the upper lip and downturned corners of the mouth; nails were absent on both great toes and thumb. Electroencephalogram showed a diffusely slow background. Whole genome sequencing identified one pathogenic missense mutation in KCNH1 (c. 1529 A > C; Asn510Thr) in this TMBTS patient. The mutation was also validated by Sanger sequencing. Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.