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Clinical dysmorphology is the study of rare syndromes that accompany malformations and/or phenotypic abnormalities. Around 2500 dysmorphology syndromes or malformations have been described, the great majority accompanied by mental retardation. Combinations of small phenotype variations characterize a large number of them, without there being a principal malformation. The examination of the face and, to a lesser extent, the extremities is the element that most often determines the diagnosis.

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2D/3D/4D Ultrasound of the Fetal Face in Genetic Syndromes

  • 章节

  • 发表日期：

    2025年

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  • Pilar Martínez-Ten,
  • Waldo Sepulveda,
  • Gianpaolo Grisolia,
  • Gabriele Tonni

摘要

Clinical dysmorphology is the study of rare syndromes that accompany malformations and/or phenotypic abnormalities. Around 2500 dysmorphology syndromes or malformations have been described, the great majority accompanied by mental retardation. Combinations of small phenotype variations characterize a large number of them, without there being a principal malformation. The examination of the face and, to a lesser extent, the extremities is the element that most often determines the diagnosis.