Results 61 to 70 of about 9,285 (205)

LARGE ENCEPHALOCELE. [PDF]

open access: yesThe Lancet, 1884
n ...
openaire   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

open access: yesActa Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao   +5 more
wiley   +1 more source

Cognitive improvement following repair of a basal encephalocele. [PDF]

open access: yes, 2017
We report the case of a 55-year-old woman presenting with progressive memory impairment secondary to a transsphenoidal encephalocele involving her dominant medial temporal lobe.
Siobhan Palmer   +9 more
core   +1 more source

Case Report: Anteromedial temporosphenoidal encephalocele with a clinically silent lateral bony defect in the greater wing of the sphenoid

open access: yesIndian Journal of Radiology and Imaging, 2009
Anteromedial temporosphenoidal encephalocele is the least common type of temporal encephalocele. It commonly presents with spontaneous cerebrospinal fluid rhinorrhea in adults. This article presents the CT cisternography and MRI findings of one such case,
Pandey Anoop
doaj   +3 more sources

False Computed Tomography Findings in Bilateral Choanal Atresia

open access: yesInternational Archives of Otorhinolaryngology, 2016
Introduction Choanal atresia (CA) is a challenging surgical problem defined as a failure in the development of communication between the nasal cavity and nasopharynx.
Ezzeddin Elsheikh   +1 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll   +2 more
wiley   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

open access: yesBritish Journal of Clinical Pharmacology, Volume 92, Issue 9, Page 3037-3048, September 2026.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin   +7 more
wiley   +1 more source

Exploring the Intricacies of Encephalocele Case in Pregnancy: Unraveling Risk Factors, Diagnostic Difficulty, and Implications for Maternal and Fetal Health

open access: yesObgynia
Introduction: Encephaloceles are a type of neural tube defect that carries a significant risk of death and health complications. Ultrasonography can be utilized for the early detection of encephaloceles starting from 11 weeks of gestation.
Rizky Alamsyah Martani   +1 more
doaj   +1 more source

Encephalocele development from a congenital meningocele: case report

open access: yes, 2017
A fetal MRI study obtained at 21 weeks’ gestation revealed a suboccipital meningocele without hydrocephalus. One day after term birth, MRI demonstrated an acquired cerebellar encephalocele, and MRI obtained 5 months later showed progressive enlargement ...
Ezequiel Goldschmidt   +3 more
core   +1 more source

An infant presenting with an occipital encephalocele containing an epidermoid cyst: a rare case report

open access: yesInterdisciplinary Neurosurgery
Encephalocele is a congenital neural tube defect characterized by the herniation of intracranial contents through a defect in the skull bone. An epidermoid cyst is an ectodermal cell-containing lesion in an abnormal location.We present a case of an ...
Shuvro Saha   +3 more
doaj   +1 more source

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