نتایج جستجو برای: holoprosencephaly
تعداد نتایج: 755 فیلتر نتایج به سال:
INTRODUCTION Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome (OMIM No. 129900) is characterized by the triad of ectrodactyly, ectodermal dysplasia and facial clefting (of the lip and/or palate). Holoprosencephaly denotes a failure in the division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemisphere. The association between ectrodactyly-ectodermal ...
Holoprosencephaly is a rare intracranial abnormality. The incidence of holoprsencephaly is between 0.56-0.63 of 10,000 live-born infants10. It has classified into three degrees, alobar, semilobar and lobar. In this case report we are introducing a case of Holoprosencephaly, in 13 weeks of pregnancy which was twin. We could identified this abnormality and the reduction was done in the appropriat...
Syntelencephaly or the middle interhemispheric variant of holoprosencephaly is a rare subtype of holoprosencephaly and consists of a nonseparation of the posterior frontal and parietal regions of both cerebral hemispheres. We report conventional MR imaging, diffusion tensor imaging, and fiber tractography findings of a girl with syntelencephaly and discuss the information that diffusion tensor ...
Holoprosencephaly (HPE) is a brain malformation resulting from a primary defect in development of the basal forebrain during early gestation. Prenatal genetic and environmental factors and birth outcomes were described in a population of 104 children with holoprosencephaly referred to three clinical centers from 1998 through 2002. The mean child age was 4 years. Of cases karyotyped, 9% presente...
OBJECTIVES To examine the prevalence of alobar holoprosencephaly, exomphalos, megacystis and nuchal translucency thickness (NT) ≥ 3.5 mm, the incidence and types of chromosomal abnormalities associated with these conditions and their overall impact on the rate of invasive testing and performance of screening at 11-14 weeks. METHODS This was a prospective screening study for trisomies 21, 18 a...
Unique Alterations of an Ultraconserved Non-Coding Element in the 3′UTR of ZIC2 in Holoprosencephaly
Coding region alterations of ZIC2 are the second most common type of mutation in holoprosencephaly (HPE). Here we use several complementary bioinformatic approaches to identify ultraconserved cis-regulatory sequences potentially driving the expression of human ZIC2. We demonstrate that an 804 bp element in the 3' untranslated region (3'UTR) is highly conserved across the evolutionary history of...
PURPOSE To correlate the degree of hemispheric fusion in holoprosencephaly with degree of callosal formation, with degree of thalamic and basal ganglia fusion, and with presence or absence of dorsal cyst. METHODS MR, CT, and ultrasonography from 19 patients with holoprosencephaly was retrospectively reviewed. The imaging studies were graded according to extent of the hemispheric fusion, thala...
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