نتایج جستجو برای: microcephaly
تعداد نتایج: 3104 فیلتر نتایج به سال:
Background and purpose: Microcephaly is reduced head circumference more than two standard deviation below the mean for the age and sex. Genetic microcephaly disorder is divided into two categories; isolated and syndromic microcephaly. The incidence of autosomal recessive primary microcephaly in consanguineous population is more than that in non-consanguineous population. So far, few studies are...
abstractbackground: this study aimed to present a rare case of neu-laxova syndrome (nls) and review the newly revealed genetic features of the disease in hopes to find a way for early interventions.case report: female newborn with nls was born at 30 weeks of gestation to consanguineous parents. the last prenatal ultrasound imaging revealed severe intrauterine growth restriction and microcephaly...
how to cite this article: akbarizar e, ebrahimpour m, akbari s, arzhanghi s, abedini ss, najmabadi h, kahrizi k. a novel deletion mutation in aspm gene in an iranian family with autosomal recessive primary microcephaly. iran j child neurol. 2013 spring;7(2):23-30. objective autosomal recessive primary microcephaly (mcph) is a neurodevelopmental and genetically heterogeneous disorder with dec...
BACKGROUND AND PURPOSE Although microcephaly is the most prominent feature of congenital Zika syndrome, a spectrum with less severe cases is starting to be recognized. Our aim was to review neuroimaging of infants to detect cases without microcephaly and compare them with those with microcephaly. MATERIALS AND METHODS We retrospectively evaluated all neuroimaging (MR imaging/CT) of infants 1 ...
Objective: About 50% of severe to profound intellectual disabilities (ID) are caused by genetic factors. In this study we decided to investigate the genetic causes of ID in 69 Bushehrian families to provide information for genetic counseling, carrier detection, and prenatal diagnosis. Materials & Methods: In this study we excluded known chromosomal abnormalities. The majority of families had...
Congenital microcephaly with a simplified gyral pattern: associated findings and their significance.
BACKGROUND AND PURPOSE Primary microcephaly is an incompletely understood malformation that is often associated with developmental brain anomalies, yet whether the associated anomalies result from the microcephaly itself or from associated developmental/genetic mishaps is not yet understood. This study reviewed and analyzed a large number of MR imaging scans of children with microcephaly to det...
Microcephaly is defined as a head circumference more than two standard deviations below the mean for gender and age. Congenital microcephaly is present at birth, whereas postnatal microcephaly occurs later in life. Genetic abnormalities, syndromes, metabolic disorders, teratogens, infections, prenatal, perinatal, and postnatal injuries can cause both congenital and postnatal microcephaly. Evalu...
interesting questions related to a hot topic will eventually be revealed by somebody. Therefore, I try to study what other people do not. One thing I try to keep in mind is whether my questions are of general interest. My major interest lies in the underlying mechanism of seasonality. Because research on this topic requires a long time, few people want to work on this topic. I used quail as a m...
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