Results 1 to 10 of about 290,347 (229)

Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review [PDF]

BMC Medical Genetics, 2017
Background Microcephaly is a disorder characterized by severe impairment in brain development, reduced brain and head size. Congenital severe microcephaly is very rare, and NDE1 deletion and genetic mutations are important contributors. Case presentation
Li Tan, Bo Bi, Peiwei Zhao, Xiaonan Cai, Chunhui Wan, Jianbo Shao, Xuelian He   +6 more
doaj   +3 more sources

A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report [PDF]

Diagnostics, 2021
Microcephaly and microphthalmia are both rare congenital abnormalities, while concurrently, these two are even rarer. The underlying etiology would be complex interplaying between heterogeneous genetic background and the environmental pathogens ...
Vivian Kwun Sin Ng, Tze Kin Lau, Anita Sik Yau Kan, Brian Hon Yin Chung, Ho Ming Luk, Wai Fu Ng, Mengmeng Shi, Kwong Wai Choy, Ye Cao, Wing Cheong Leung   +9 more
doaj   +3 more sources

COLQ-mutant congenital myasthenic syndrome with microcephaly: A unique case with literature review

Translational Neuroscience, 2017
Congenital Myasthenic Syndrome (CMS) is a group of inherited neuromuscular junction disorders caused by defects in several genes. Clinical features include delayed motor milestones, recurrent respiratory illnesses and variable fatigable weakness.
Mohammed A Al-Muhaizea
exaly   +4 more sources

Socioeconomic disparities associated with symptomatic Zika virus infections in pregnancy and congenital microcephaly: A spatiotemporal analysis from Goiânia, Brazil (2016 to 2020). [PDF]

PLoS Neglected Tropical Diseases, 2022
The Zika virus (ZIKV) epidemic, which was followed by an unprecedented outbreak of congenital microcephaly, emerged in Brazil unevenly, with apparent pockets of susceptibility.
Luiza Emylce Pela Rosado, Erika Carvalho de Aquino, Elizabeth Bailey Brickley, Divania Dias da Silva França, Fluvia Pereira Amorim Silva, Vinicius Lemes da Silva, Angela Ferreira Lopes, Marilia Dalva Turchi   +7 more
doaj   +2 more sources

The Unfolded Protein Response: A Key Player in Zika Virus-Associated Congenital Microcephaly [PDF]

Frontiers in Cellular Neuroscience, 2019
Zika virus (ZIKV) is a mosquito-borne virus that belongs to the Flaviviridae family, together with dengue, yellow fever, and West Nile viruses. In the wake of its emergence in the French Polynesia and in the Americas, ZIKV has been shown to cause ...
Christian Alfano, Ivan Gladwyn-Ng, Thérèse Couderc, Thérèse Couderc, Marc Lecuit, Marc Lecuit, Marc Lecuit, Laurent Nguyen   +7 more
doaj   +2 more sources

Prevalence and causes of congenital microcephaly in the absence of a Zika virus outbreak in southern Brazil

Jornal De Pediatria, 2019
Objective: The aim of this study was to identify the causes of congenital microcephaly in Rio Grande do Sul, a state in southern Brazil, where no ZIKV outbreak was detected, from December 2015 to December 2016, which was the period when ZIKV infection ...
Lavinia Schuler-Faccini, Maria Teresa Vieira Sanseverino, Ida Vanessa D Schwartz   +2 more
exaly   +5 more sources

Microcephaly Resulting From Congenital Toxoplasmosis: What the Radiologist can Expect to See? A Case Report

Radiology Case Reports
Microcephaly is defined as an occipitofrontal head circumference two standard deviations (2SD) below average for age and sex, with severe microcephaly below three standard deviations (3SD).
Salma Marrakchi, Soumya El Graini, Nazik Allali   +2 more
exaly   +3 more sources

Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly [PDF]

Cells, 2023
Muhammad Sajid Hussain, Uzma Abdullah, Peter Nürnberg   +2 more
exaly   +2 more sources

Congenital Zika syndrome: Growth, clinical, and motor development outcomes up to 36 months of age and differences according to microcephaly at birth

International Journal of Infectious Diseases, 2021
Background: Little is known regarding the developmental consequences of congenital Zika syndrome (CZS) without microcephaly at birth. Most previously published clinical series were descriptive and they had small sample sizes. Study design: We conducted a
Ricardo Khouri, Vanda Ferreira Simões, Luciana C Costa   +2 more
exaly   +3 more sources

Case Fatality Rate Related to Microcephaly Congenital Zika Syndrome and Associated Factors: A Nationwide Retrospective Study in Brazil † †

Viruses, 2020
Background: The clinical manifestations of microcephaly/congenital Zika syndrome (microcephaly/CZS) have harmful consequences on the child’s health, increasing vulnerability to childhood morbidity and mortality. This study analyzes the case fatality rate
Mauricio Lima Barreto, Moreno S Rodrigues, Enny S Paixao   +2 more
exaly   +3 more sources