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Dysmorphic Syndromes with Prenatal Dwarfism and Skeletal Anomalies

  • Aniello Di Meglio,
  • Olimpia Gabrielli,
  • Giordana Sica

摘要

Prenatal dysmorphic dwarfisms belong to this group, almost always accompanied by delayed bone maturation and skeletal anomalies, especially of the extremities, with possible mental retardation. The main syndromes of this group are de Lange syndrome, Dubowitz syndrome, Seckel syndrome, and Silver-Russell syndrome. The message is that, in case of biometric delay, it is necessary to recommend the carrying out of genetic studies because it is possible to recognize some syndromes which are associated with severe mental retardation.