title: Norman-Roberts syndrome: characterization of the phenotype in early fetal life.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors: Medical Genetics Unit, Dipartimento dell'Area Salute della Donna, del Bambino e del Neonato, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy.
authors: Federica
authors: F
authors: Natacci
authors: Maria Francesca
authors: MF
authors: Bedeschi
authors: Andrea
authors: A
authors: Righini
authors: Francesca
authors: F
authors: Inverardi
authors: Tommaso
authors: T
authors: Rizzuti
authors: Chiara
authors: C
authors: Boschetto
authors: Fabio
authors: F
authors: Triulzi
authors: Roberto
authors: R
authors: Spreafico
authors: Carolina
authors: C
authors: Frassoni
authors: Faustina
authors: F
authors: Lalatta
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D001921:Brain / Q000196:embryology*; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000196:embryology*; D005260:Female; D006801:Humans; D008831:Microcephaly / Q000000981:diagnostic imaging / Q000196:embryology*; D010641:Phenotype; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal