Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
A flock of researchers from around the globe shared their findings in dysmorphology and molecular genetics at this year’s ESHG as a part of FDNA’s corporate satellite talk and various scientific posters. Karin Weiss (Rambam Health Care Campus, Haifa, Israel) presented her further work on Sifrim Hitz Weiss Syndrome (SIHIWES), a recently described form […]
Am J Med Genet C Semin Med Genet. 2017 Sep;175(3):320-328. doi: 10.1002/ajmg.c.31568. Epub 2017 Aug 2. Carey JC. The designation, phenotype, was proposed as a term by Wilhelm Johannsen in 1909. The word is derived from the Greek, phano (showing) and typo (type), phanotypos. Phenotype has become a widely recognized term, even outside of the genetics community, in recent years with […]
Title: P09.022B – Interest of searching dysmorphic features in Autism Spectrum Disorder: Comparison of clinical geneticists and Face2Gene photos analyses Keywords: autism; dysmorphology; Face2Gene Authors: S. Tordjman1, C. Robert2, N. Fleischer3, C. Baumann4, L. Burglen5, D. Cohen6, D. Héron7, N. Pichard8, A. Verloes4, C. Quelin9, F. Demurger9, M. Fradin9, L. Pasquier9, S. ODENT9,10; 1Pôle Hospitalo-Universitaire de […]
Title: P14.075C – Automated patient matching from facial photos – initial feasibility study Automated patient matching from facial photos – initial feasibility study Keywords: photos; facial Authors: N. Ekhilevitch1,2, T. Hershkovitz1, A. Kurolap2, M. Steinberg1, H. N.Baris1,2, N. Fleischer3;1The Genetics Institute, Rambam Health Care Campus, Haifa, Israel, 2The Ruth and Bruce Rappaport Faculty of Medicine, […]
Title: P14.083C – From Face to Gene – Identifying the Genotype of RASopathies with FDNA Keywords: RASopathies; Facial Dysmorphology Novel Analysis technology Authors: S. B. Kamphausen, M. Zenker;Institute of Human Genetics, Magdeburg, Germany. Abstract: Introduction: RASopathies comprise a group of disorders caused by germline mutations in RAS-MAPK pathway genes. Characteristic features are growth retardation, heart defects […]
Title: P14.042B – Clinical Application of a Facial Dysmorphology Tool: A Performance Analysis Keywords: Facial Dysmorphology Tool Authors: D. Lopergolo1, A. Currò1, A. M. Pinto1, C. Lo Rizzo1, M. Baldassarri1, G. Cevenini2, M. A. Mencarelli1, F. Mari1, A. Renieri1; 1Medical Genetics, Department of Medical Biotechnologies, University of Siena, Siena, Italy, 2Department of Medical Biotechnologies, University of Siena, […]
Title: P14.041A – the utility of computer-assisted facial recognition in the etiologic diagnosis of patients with global developmental delay & intellectual disability Keywords: face2gene; global developmental delay; intellectual disability Authors: L. Morlan, M. Garcia jimenez, J. Lopez pison, J. Peña Segura, L. Monge Galindo, A. Lopez Lafuente, M. Lafuente, S. Izquierdo, A. Rodriguez, M. Miramar, […]
Title: P14.003C – Next-generation phenotyping in Emanuel and Pallister Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos Keywords: Emanuel Syndrome; Pallister Killian Syndrome; Facial-Dysmorphology-Novel-Analysis (FDNA) technol Authors: T. Liehr1, N. Acquarola2, K. Pyle1, S. St-Pierre3, M. Rinholm4, I. Schreyer1; 1Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany, 2Pallister-Killian Syndrome Foundation […]