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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/pd.1728 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A case of Norman-Roberts syndrome identified from postnatal diagnosis of microlissencephaly.
Fetal Pediatr Pathol
June 2015
Department of Neonatology, Assistance Publique-Hôpitaux de Marseille, North University Hospital, Marseille , France.
Lissencephaly is a rare brain malformation. What differentiates microlissencephaly from classical lissencephaly and other variants is the presence of severe microcephaly. Very few postnatal cases of Norman-Roberts syndrome are described in the literature.
View Article and Find Full Text PDFNorman-Roberts syndrome: characterization of the phenotype in early fetal life.
Prenat Diagn
June 2007
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.
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.
Report of two Turkish infants with Norman-Roberts syndrome.
Genet Couns
July 2004
Department of Pediatrics, Yüzüncü Yil University, Faculty of Medicine, Van, Turkey.
Lissencephaly or agyria refers to a rare disorder that is characterized by the absence of cerebral convolutions and a poorly formed sylvian fissure, giving the appearance of a 3-4 months old fetal brain. At present more than 25 dysmorphology syndromes with lissencephaly or other disorders of neuronal migration have been described. In 1976, Norman et al.
View Article and Find Full Text PDFWe report on the autopsy findings of a male fetus in the 27th week of gestation with Norman-Roberts syndrome. The unaffected parents are first cousins and have a five-year-old child with a low, sloping forehead, broad and prominent nasal bridge, widely set eyes, severe psychomotor retardation, and an agyric cortex. Prenatal diagnosis showed a small head at the 25th week of gestation.
View Article and Find Full Text PDFNorman-Roberts syndrome: clinical and molecular studies.
Am J Med Genet
August 1993
Department of Paediatrics, University La Sapienza, Roma, Italy.
We report on a 7-year-old boy with microcephaly, bitemporal hollowing, low sloping forehead, slightly prominent occiput, widely set eyes, broad and prominent nasal bridge, and severe postnatal growth deficiency. Hypertonia, hyperreflexia, seizures, and profound mental retardation were also present. Brain MRI documented partial agyric cortex with patchy pachygyria, colpocephaly, and hypoplasia of corpus callosum and brain stem, which is consistent with the diagnosis of lissencephaly type I grade 2.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!