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Norman–Roberts syndrome: characterization of the phenotype in early fetal life
Author(s) -
Natacci Federica,
Bedeschi Maria Francesca,
Righini Andrea,
Inverardi Francesca,
Rizzuti Tommaso,
Boschetto Chiara,
Triulzi Fabio,
Spreafico Roberto,
Frassoni Carolina,
Lalatta Faustina
Publication year - 2007
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1728
Subject(s) - fetus , pathological , prenatal diagnosis , microcephaly , pregnancy , gestation , medicine , phenotype , pediatrics , pathology , obstetrics , biology , genetics , gene
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. Copyright © 2007 John Wiley & Sons, Ltd.