Norman-Roberts syndrome: Characterization of the phenotype in early fetal life

Federica Natacci, Maria Francesca Bedeschi, Andrea Righini, Francesca Inverardi, Tommaso Rizzuti, Chiara Boschetto, Fabio Triulzi, Roberto Spreafico, Carolina Frassoni, Faustina Lalatta

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: Our purpose is to describe the prenatal manifestation of Norman-Roberts syndrome and to expand the knowledge of the fetal phenotype of this rare condition. The recurrence in two sibs might contribute to the hypothesis of a recessive condition. Methods: Three cases are presented in which the diagnosis was suggested by a prenatal ultrasound examination and confirmed by pathology of the fetuses, after termination of pregnancy. The major sign was the ultrasound detection of microcephaly at the 22nd and 23rd week of gestation. Fetal Magnetic Nuclear Resonance, the pathological examination with histological studies, was applied to arrive at the diagnosis of Norman-Roberts syndrome. Conclusion: To the best of our knowledge, this is the second description of prenatal cases of Norman-Roberts syndrome. The combined clinical and pathological data is a contribution that might help to increase the identification of this rare condition and to correctly define the risk of its recurrence.

Original languageEnglish
Pages (from-to)568-572
Number of pages5
JournalPrenatal Diagnosis
Volume27
Issue number6
DOIs
Publication statusPublished - Jun 2007

Keywords

  • Microcephaly
  • Norman-roberts syndrome
  • Prenatal diagnosis
  • Rare disease

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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