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Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.

Latest articles

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  S. B. Kamphausen, M. Zenker. From Face to Gene – Identifying the Genotype of RASopathies with FDNA. ESHG 2017

  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 […]

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  M. A. Mencarelli, et al. Clinical Application of a Facial Dysmorphology Tool: A Performance Analysis

  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, […]

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  L. Morlan. The utility of computer-assisted facial recognition in the etiologic diagnosis of patients with global developmental delay & intellectual disability

  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, […]

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  T. Liehr. Next generation phenotyping in Emanuel and Pallister Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos

  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 […]

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  What to Do and See at ESHG 2017 in Copenhagen

  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 […]

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  Age-specific Facial Analysis Discoveries for Overgrowth Syndromes in the Year of Discovery

  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 […]

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  Spotlight on Metabolic Disorders and LSDs for the Year of Discovery

  Special thanks to ThinkGenetic for contributing to this post. This month, the Year of Discovery spotlights metabolic disorder and LSDs. Uploading cases of MPS, Fabry and other syndromes in this category to FDNA’s Face2Gene application can help accelerate advancements. Every time a case is analyzed by Face2Gene, the de-identified case data will train the system to […]

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  Romana’s Journey with Sotos Syndrome

  This month in the Year of Discovery, FDNA spotlights overgrowth syndromes. Every case uploaded in April will be matched with a $1 donation sponsored by Invitae and benefiting the Child Growth Foundation.* Every time a patient’s case is analyzed by Face2Gene, the de-identified information will train the system to recognize new associations between phenotypes, facial […]

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  New Facial Analysis Discoveries for RASopathy Syndromes in the Year of Discovery

  In March, FDNA reached out to clinicians and patients globally as part of the Year of Discovery to collect and analyze patient data from a category of syndromes known as RASopathies, in partnership with Blueprint Genetics and the Noonan Syndrome Foundation. A research team at FDNA, dedicated to making new discoveries with this data, has released […]

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