American Journal of Medical Genetics Part A · 2013 · 150 citations · 35 references
Life SciencesDevelopmental BiologyGeneticsDevelopmental AnatomyDevelopmental PediatricsHuman GeneticsCongenital AnomaliesCongenital MalformationsFetal AnomaliesAnatomical AnomaliesAssessment Of Congenital AnomaliesCongenital Anatomical VariationsCongenital Anomalies GeneticsPhenotype Interpretation
Clinicians in dysmorphology have created a process to standardize terms describing human morphology. The project aims to standardize terms and reach consensus on their definitions. The project will improve the usefulness and precision of phenotype descriptions and enable reliable comparisons across clinicians and researchers. The authors define and illustrate general terms for congenital anomalies in human conditions. © 2013 Wiley Periodicals, Inc.
Abstract An international group of clinicians working in the field of dysmorphology has established a process for the standardization of terms used to describe human morphology. The goals are to standardize these terms and develop consensus regarding their definitions. This project will increase the usefulness and precision of descriptions of the human phenotype and facilitate reliable comparisons of phenotypic findings among clinicians and researchers in medicine, developmental biology, and genetics. Here we define and illustrate the general terms that describe congenital anomalies as related to human conditions. © 2013 Wiley Periodicals, Inc.
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Errors of morphogenesis: Concepts and terms
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Daddy Issues: Paternal Effects on Phenotype
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