Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
FDNA highlighted metabolic disorders and LSDs during May for the Year of Discovery. We are uniting healthcare, advocacy and technology for rare disease advancements. Every case uploaded in May was matched with a $1 donation sponsored by Blueprint Genetics, benefiting the National MPS Society.* Every time a patient’s case is analyzed by Face2Gene, the de-identified information will train […]
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 […]
Annual Clinical Genetics Meeting (ESHG 2017) Bella Center Copenhagen, Copenhagen, Denmark May 27-30, 2017 Copenhagen, Denmark – The time is yet again upon us here at FDNA to pack our bags and make the exciting journey across the pond to attend ESHG. While in Copenhagen, we are looking forward to connecting with colleagues, old and new, while […]
In April 2017, FDNA analyzed patient data from syndromes categorized as Overgrowth Syndromes as part of the Year of Discovery, in partnership with Invitae and Child Growth Foundation. A research team at FDNA, dedicated to making new discoveries with this data, has released new results, in addition to the March RASopathy findings, in the ongoing […]