Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology. JR Shaffer, E Orlova, MK Lee, EJ Leslie, ZD Raffensperger, CL Heike, more…

Date: August 2016 Source: PLOS Genetics Abstract: Numerous lines of evidence point to a genetic basis for facial morphology in humans, yet little is known about how specific genetic variants relate to the phenotypic expression of many common facial features. We conducted genome-wide association meta-analyses of 20 quantitative facial measurements derived from the 3D surface…

Heritability maps of human face morphology through large-scale automated three-dimensional phenotyping. D Tsagkrasoulis, P Hysi, T Spector, G Montana.

Date: August 2016 Source: ResearchGate Abstract: The human face is a complex trait under strong genetic control, as evidenced by the striking visual similarity between twins. Nevertheless, heritability estimates of facial traits have often been surprisingly low or difficult to replicate. Furthermore, the construction of facial phenotypes that correspond to naturally perceived facial features remains…

New expert panel hoping to unlock mysteries of undiagnosed diseases.

Date: 23 Jul 2016, 10:23p Source: ABC News Australia Author: Claire Moodie Jessica’s mystery disease tackled by expert panel The family of a Perth girl is cautiously hoping a panel of experts will be able to diagnose the mystery condition which has baffled the 11-year-old’s doctors for years. 190,000 West Australians affected by rare diseases.…

3D Workflows in Orthodontics, Maxillofacial Surgery and Prosthodontics. Wicher J. van der Meer.

Date: 2016 Source: PhD Thesis Abstract: 3D workflows should result in clinical procedures that help clinicians to get better results with less effort and at lower costs. In other words, the 3D technology should make complex and difficult clinical procedures simpler and easier with reduced costs for healthcare. If 3D workflows are available with a…

Hypertelorism and Orofacial Clefting Revisited: An Anthropometric Investigation. SM Weinberg, EJ Leslie, JT Hecht, GL Wehby, FWB Deleyiannis, LM Moreno, K Christensen, ML Marazita.

Date: June 2016. ONLINE AHEAD OF PRINT Source: The Cleft Palate-Craniofacial Journal. Objective: Since the 1960s, multiple studies have reported a tendency toward hypertelorism in individuals with nonsyndromic orofacial clefts (OFCs). However, the association between specific cleft types and increased interorbital distance has been inconsistent. Using three-dimensional (3D) surface imaging, we tested whether different forms…

The MC1R Gene and Youthful Looks. F Liu, MA Hamer, J Deelen, JS Lall, L Jacobs, D van Heemst, PG Murray, A Wollstein, AJM de Craen, HW Uh, CQ Zeng, A Hofman, AG Uitterlinden, JJ Houwing-Duistermaat, LM Pardo, M Beekman, PE Slagboom, T Nijsten, M Kayser, DA Gunn.

Date: April 2016. Source: Current Biology, Volume 26, Issue 9, 9 May 2016, Pages 1213–1220. Highlights: • We present the first genetic associations with how old people look (perceived age) • Variants in MC1R, a pigmentation gene, significantly associated with perceived age • The MC1R association was independent of wrinkling, skin color, and sun exposure…

Infantile hemangioma status by dynamic infrared thermography: A preliminary study. SA Burkes, M Patel, DM Adams, AM Hammill, KP Eaton, RR Wickett, MO Visscher.

Date: April 2016. Source: International Journal of Dermatology. Background: Infantile hemangiomas (IH) are initially warm due to increased proliferation and perfusion then involute with apoptosis and reduced perfusion. Objective quantitative evaluation of IH treatment response is essential for improving outcomes. We applied a functional imaging method, dynamic infrared (IR) thermography, to investigate IH status versus…

Using the 3D Facial Norms Database to investigate craniofacial sexual dimorphism in healthy children, adolescents, and adults. MJ Kesterke, ZD Raffensperger, CL Heike, ML Cunningham, JT Hecht, CH Kau, NL Nidey, LM Moreno, GL Wehby, ML Marazita, and SM Weinberg.

Date: April 2016 Source: Biology of Sex Differences. Background: Although craniofacial sex differences have been extensively studied in humans, relatively little is known about when various dimorphic features manifest during postnatal life. Using cross-sectional data derived from the 3D Facial Norms data repository, we tested for sexual dimorphism of craniofacial soft-tissue morphology at different ages.…

Measuring Symmetry in Children With Unrepaired Cleft Lip: Defining a Standard for the Three-Dimensional Mid-facial Reference Plane. J Wu, C Heike, C Birgfeld, K Evans, M Maga, C Morrison, B Saltzman, L Shapiro, R Tse.

Date: March 2016 (Online ahead of print) Source: The Cleft Palate-Craniofacial Journal. Objective: Quantitative measures of facial form to evaluate treatment outcomes for cleft lip (CL) are currently limited. Computer-based analysis of three-dimensional (3D) images provides an opportunity for efficient and objective analysis. The purpose of this study was to define a computer-based standard of…

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…