Molecular genetic analysis in 14 czech kabuki syndrome patients is confirming the utility of phenotypic scoring. J Paděrová; A Holubová; M Simandlová; A Puchmajerová; M Vlčková; M Malíková; R Pourová; S Vejvalková; M Havlovicová; M Šenkeříková; N Ptáková; J Drábová; J Geryk; A Maver; A Křepelová; M Macek.

Date: February 2016. Source: Clinical Genetics. The International Journal of Genetics, Molecular, and Personalized Medicine. Abstract: Kabuki syndrome (KS) is a dominantly inherited disorder mainly due to de novo pathogenic variation in KMT2D or KDM6A genes. Initially, a representative cohort of 14 Czech cases with clinical features suggestive of KS was analyzed by experienced clinical…

The Oropharyngeal Airway in Young Adults with Skeletal Class II and Class III Deformities: A 3-D Morphometric Analysis. YSN Jayaratne, RA Zwahlen.

Date: February 2016. Source: PLOS | One. Objective: 1) To determine the accuracy and reliability of an automated anthropometric measurement software for the oropharyngeal airway and 2) To compare the anthropometric dimensions of the oropharyngeal airway in skeletal class II and III deformity patients. Methods: Cone-beam CT (CBCT) scans of 62 patients with skeletal class…