Results 21 to 30 of about 8,132 (239)
Prenatal Diagnosis and Clinical Phenotypic Heterogeneity of 22q11.2 Microdeletion Syndrome Based on a Single Center Retrospective Study. [PDF]
Chromosome 22q11.2 microdeletion syndrome (22q11.2DS) is a common congenital disorder with high clinical phenotypic heterogeneity. In this study, we retrospectively investigated the incidence of prenatal diagnosis of 22q11.2DS in a single center and summarized its clinical manifestations to expand the phenotypic database ABSTRACT Objective To ...
Chen JY, Cai MJ, Ge YS.
europepmc +2 more sources
A Case Report on Thornwaldt Cyst: An Uncommon Nasopharyngeal Anomaly in an 18-Year-Old Male. [PDF]
ABSTRACT Thornwaldt cysts are rare, benign nasopharyngeal remnants that often remain asymptomatic but can cause significant discomfort when symptomatic. This case report discusses an 18‐year‐old male who experienced a persistent foreign body sensation in his nose for 4 months.
Chaurasia D +4 more
europepmc +2 more sources
Cervical Meningomyelocele - Single Center Experience
INTRODUCTION: Cervical meningomyelocele (MMC) is rarely seen compared to lumbosacral and thoracolumbar meningomyelocele. There are only a few series related to cervical MMC in the literature.
Mehmet Edip Akyol, Ozkan Arabaci
doaj +1 more source
Cri-Du-Chat Syndrome Associated With Meningomyelocele: A Case Report
Cri-du-chat syndrome (CdCS) is a rare genetic disorder in which the short arm of chromosome 5 is deleted. This report aims to highlight a rare association with the syndrome.
Fatimah A Alabbad +5 more
semanticscholar +1 more source
Myelomeningoceles with soft tissue defects are often difficult to close primarily and require reconstructive surgery. Furthermore, cases with large skin defects or cases with kyphosis of the spine require a large area to be covered, making reconstruction
Junya Oshima +3 more
semanticscholar +1 more source
AIM The aim of this study was to evaluate the bilateral vertical bipedicled procedure for the closure of large meningomyelocele defects and to emphasise some technical and clinical considerations.
C. Demir +3 more
semanticscholar +1 more source
Role of perforator flaps in meningomyelocele defect repair
Background: With an incidence of 1–2 in 1000 live births, meningocele is a relatively frequent birth defect. The lumbosacral region is affected in threequarters of the cases.
Necip Sefa Ozden +2 more
doaj +1 more source
INTRODUCTION: Meningocele/meningomyelocele is the most common malformation of medullaspinalis. In this study, clinical experience with meningocele / meningomyelocele treatment was reported and it was aimed to assist the patient with such pathology in ...
Özgür Demir
doaj +1 more source
Neural tube defects: current view on etiology, prenatal prevention, and early diagnosis. A review
A literature review on the etiology, prevention, and early diagnosis of neural tube defects is presented, focusing on the causes and risk factors for these disorders.
Liliyana A. Chugunova +2 more
doaj +1 more source
Anaesthetic Management for Charcot Joint Surgery in a Previously Operated Meningomyelocele Patient: A Case Report [PDF]
Charcot joint, a degenerative condition characterised by bone and joint destruction, often requires surgical intervention to alleviate pain and prevent complications.
Saiesh Narayan Raut Dessai +3 more
doaj +1 more source

