Minzer-Conzetti Karen, Wu Erica, Vargervik Karin, Slavotinek Anne
Department of Pediatrics, Division of Genetics, University of California, San Francisco Center for Craniofacial Anomalies, University of California San Francisco, San Francisco, California, USA.
Clin Dysmorphol. 2008 Jan;17(1):1-4. doi: 10.1097/MCD.0b013e3282efdad8.
We report a 20-year-old man with trismus-pseudocamptodactyly (TPS) syndrome who was found to have the same MYH8 mutation, p.R674Q, described in previous families with TPS syndrome and in one family with a Carney complex variant, trismus and pseudocamptodactyly. This patient had facial asymmetry, ptosis and downslanting palpebral fissures and multiple joint involvement, with bilateral hip dysplasia, reduced elbow supination, vertical tali and talipes in addition to the classical findings of trismus and pseudocamptodactyly. These findings broaden the phenotype associated with p.R674Q mutations and support the use of MYH8 testing in patients with a clinical diagnosis of TPS syndrome.
我们报告了一名患有牙关紧闭-假性弯曲指（TPS）综合征的20岁男性，发现他具有与先前患有TPS综合征的家族以及一个患有卡尼复合体变异型（牙关紧闭和假性弯曲指）的家族中所描述的相同的MYH8突变，即p.R674Q。该患者存在面部不对称、上睑下垂和睑裂向下倾斜，以及多关节受累，除了牙关紧闭和假性弯曲指的典型表现外，还有双侧髋关节发育不良、肘关节旋后受限、垂直距骨和畸形足。这些发现拓宽了与p.R674Q突变相关的表型，并支持对临床诊断为TPS综合征的患者进行MYH8检测。
