The objective of this study was to present a systematic review of the central nervous system (CNS) types of anomalies and to consider the possibility to include CNS anomalies in Incontinentia pigmenti (IP) criteria. The analyzed literature data from 1,393 IP cases were from the period 1993-2012. CNS anomalies were diagnosed for 30.44% of the investigated IP patients. The total number of CNS typ...

Central nervous system (CNS) malformations are the most common defects in the human fetus and affect approximately 0.3-1% of live births1-2. Prenatal detection and accurate definition of CNS malformations are important since these anomalies frequently have a severe prognosis and are often associated with genetic syndromes2. Despite the high incidence of CNS anomalies and the clinical importance...

Mutations in chromosome-helicase-DNA-binding protein 7 (CHD7) are identified as the main cause for CHARGE syndrome (coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies). Most patients (55% to 85%) with CHARGE syndrome display developmental defects in the central nervous system (CNS), of which pathology and molecular mechanisms remain unclear. In this study, we repor...

OBJECTIVE To investigate the incidence of associated anomalies, aneuploidy, cyst progression, need for surgery and neurodevelopmental outcome in fetuses with extra-axial supratentorial intracranial cysts. DATA SOURCES Medline, Embase and CINAHL databases were searched and the following outcomes analyzed: associated central nervous system (CNS) and extra-CNS anomalies detected at the scan, chr...

microphthalmia is defined as a globe with a total axial length that is at least two standard deviations below the mean for age. it may be isolated or part of a syndrome with other associated anomalies. causes can be divided into environmental, heritable or unknown. some researchers believe that microphthalmia and anophthalmia belong to one family. unilateral and bilateral anophtalmia have been ...

The aims of this study were to evaluate the contribution of chromosomal microarray analysis (CMA) in the prenatal diagnosis of fetuses with central nervous system (CNS) anomalies but normal chromosomal karyotype. A total of 46 fetuses with CNS anomalies with or without other ultrasound anomalies but normal karyotypes were evaluated by array-based comparative genomic hybridisation (aCGH) or sing...

OBJECTIVE The aim of this study was to describe the nature of central nervous system (CNS) anomalies diagnosed during the third trimester following a normal anatomy scan at 21-24 weeks of gestation. METHODS Retrospective cohort study of all pregnant women referred to the fetal medicine unit at Sheba Medical Center between 2005 and 2011 due to fetal CNS anomalies detected at the late second an...

BACKGROUND Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterization of CNS involvement observed in this disorder. METHODS A cohort of 117 molecularly diagnosed OF...

This volume succinctly presents a review of central nervous system development and congenital malformations and illustrates the material superbly with numerous tables, diagrams, graphs, pathological specimens, brain sections, and, of course, CT scans. The author has done an admirable job in combining the illustrative advantages of an atlas with a review text's orientation to pertinent, concisel...