Results 1 to 10 of about 22,857 (208)

Congenital microcephaly: A diagnostic challenge during Zika epidemics

Travel Medicine and Infectious Disease, 2018
The multiple, wide and diverse etiologies of congenital microcephaly are complex and multifactorial. Recent advances in genetic testing have improved understanding of novel genetic causes of congenital microcephaly. The recent Zika virus (ZIKV) epidemic in Latin America has highlighted the need for a better understanding of the underlying pathological ...
Alvaro J Idrovo, Rodríguez-Morales Aj, Alberto E Paniz-Mondolfi   +2 more
exaly   +3 more sources

Craniofacial Cases: Congenital Microcephaly

Sonja Rasmussen
exaly   +2 more sources

Surveillance of microcephaly and selected brain anomalies in Argentina: Relationship with Zika virus and other congenital infections

Birth Defects Research, 2018
Boris Groisman, Pablo Barbero
exaly  

Oral alterations in children with microcephaly associated to congenital Zika syndrome: A systematic review and meta‐analyses

Special Care in Dentistry, 2023
exaly  

Anxiety, depression, and quality of life in mothers of newborns with microcephaly and presumed congenital Zika virus infection

Archives of Women's Mental Health, 2016
Paulo Ricardo Martins-Filho, Ricardo Gurgel, Sheila Jaqueline Gomes Dos Santos Oliveira   +2 more
exaly  

Severe congenital microcephaly with AP4M1 mutation, a case report [PDF]

BMC Medical Genetics, 2017
Background Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of ...
Sarah Duerinckx, Helene Verhelst, Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson, Marc Abramowicz   +6 more
doaj   +7 more sources

Genomic and phenotypic delineation of congenital microcephaly [PDF]

Genetics in Medicine, 2019
Congenital microcephaly (CM) is an important birth defect with long term neurological sequelae. We aimed to perform detailed phenotypic and genomic analysis of patients with Mendelian forms of CM.Clinical phenotyping, targeted or exome sequencing, and autozygome analysis.We describe 150 patients (104 families) with 56 Mendelian forms of CM.
Stefan T Arold, Brahim Tabarki, Maha Zaki   +2 more
exaly   +7 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   +2 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

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   +2 more sources