Search results for " cisterna magna"

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Prospective sonographic detection of spina bifida at 11–14 weeks and systematic literature review

2015

Objective: To conduct a literature review to assess the effectiveness of first trimester ultrasonographic markers of spina bifida (SB) integrating data with our prospective experience. Methods: The analysis of the SB cases that we prospectively detected in the first trimester, between January 2012 and February 2014, and a systematic review of all the papers evaluating the effectiveness of SB ultrasonographic markers at 11–14 weeks, namely brain stem diameter (BS), fourth ventricle/intracranial translucency (IT), cisterna magna (CM), brain stem/occipital bone distance (BSOB), the ratio between BS and BSOB. Some studies assess only the effectiveness of IT, others include more parameters, and …

AdultPediatricsmedicine.medical_specialtyBrain stem cisterna magna first trimester screening fossa intracranial translucency neural tube defect posterior ultrasoundLow risk populationCisterna magnaFourth ventricleUltrasonography PrenatalPregnancyCisterna MagnamedicineHumansProspective StudiesProspective cohort studySpinal DysraphismFourth VentriclePregnancyNeural tube defectbusiness.industrySpina bifidaObstetrics and Gynecologymedicine.diseasePregnancy Trimester FirstSystematic reviewOccipital BonePediatrics Perinatology and Child HealthFemaleNuclear medicinebusinessBrain StemThe Journal of Maternal-Fetal & Neonatal Medicine
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Oculoectodermal syndrome: Report of a new case with a broad clinical spectrum

2014

Oculoectodermal syndrome (OMIM 600268) is rare and characterized by aplasia cutis congenita, epibulbar dermoids, and other abnormalities. We report herein on a newly recognized patient with oculoectodermal syndrome, which is the 19th reported patient with OES. The boy aged six years demonstrated a broad clinical spectrum of this condition, including aplasia cutis congenita, epibulbar dermoids, hyperkeratotic papule, mildly enlarged cisterna magna, and an enlarged fluid space in the quadrigeminal cistern, suggesting a cyst. He also manifested anomalies not reported associated with this disorder, including systematized epidermal nevus following Blaschko's lines, hypopigmented skin lesions, an…

Malemusculoskeletal diseasescongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyAplasia cutis congenitaHypopigmented skin lesionsEctodermal DysplasiaOculoectodermal syndromeGeneticsmedicineHumansCystGenetics (clinical)Dermoid CystSkinHyperkeratotic papuleHypopigmentationSystematized epidermal nevusbusiness.industryEpibulbar dermoidsBrainmedicine.diseaseMagnetic Resonance ImagingDermatologyEnlarged cisterna magnaPhenotypeChild Preschoolmedicine.symptombusinessAmerican Journal of Medical Genetics Part A
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