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Ectrodactyly-ectodermal dysplasia-clefting syndrome. Prenatal prospective ultrasound diagnosis.

Giuliana OrlandiRaffaella Di GirolamoLuigi CarboneLaura SarnoAntonia MarescaCaterina FulgioneLaura Letizia MazzarelliFrancesco D'antonioIlenia MappaMaria Elena PietrolucciGiuseppe RizzoGiuseppe Maria Maruotti
Published in: Journal of clinical ultrasound : JCU (2023)
A strong suspicion of final diagnosis of EEC may be done in the presence of ectrodactyly, facial clefting and urinary malformation especially in cases of negative family history. More attention should be given to a genetic counseling, especially to understand a possible relation to other genetic syndromes.
Keyphrases
  • genome wide
  • magnetic resonance imaging
  • copy number
  • pregnant women
  • smoking cessation
  • computed tomography
  • dna methylation
  • soft tissue
  • hiv testing