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 +6 more
doaj +4 more sources
Genetic diagnosis of fetal microcephaly at a single tertiary center in China
Frontiers in Genetics, 2023 Background: Microcephaly is common in patients with neuropsychiatric problems, and it is usually closely related to genetic causes. However, studies on chromosomal abnormalities and single-gene disorders associated with fetal microcephaly are limited ...
You Wang +18 more
doaj +1 more source
ALEITAMENTO MATERNO DE CRIANÇAS COM MICROCEFALIA NO CONTEXTO DO ZIKA VÍRUS
Cogitare Enfermagem, 2021 Objective: To understand the perceptions of breastfeeding of mothers of children with microcephaly. Method: Descriptive, qualitative study with 12 women conducted at the outpatient clinic of Hospital Regional Materno Infantil de Imperatriz, Maranhão ...
Floriacy Stabnow Santos +6 more
doaj +1 more source
Microcephaly and Associated Risk Factors in Newborns: A Systematic Review and Meta-Analysis Study
Tropical Medicine and Infectious Disease, 2022 Congenital microcephaly is caused by a multitude of drivers affecting maternal–fetal health during pregnancy. It is a rare outcome in high-income industrial countries where microcephaly rates are in the range of 0.3–0.9 per 1000 newborns.
Natália de L. Melo +2 more
doaj +1 more source
Microcephaly measurement in adults and its association with clinical variables
Revista de Saúde Pública, 2022 OBJECTIVE To establish a microcephaly cut-off size in adults using head circumference as an indirect measure of brain size, as well as to explore factors associated with microcephaly via data mining.
Nicole Rezende da Costa +13 more
doaj +1 more source
Relationship between microcephaly and indicators of social inequality in the state of Paraíba, Brazil [PDF]
Einstein (São Paulo), 2023 Objective To analyze the relationship between microcephaly and social inequality indicators in the state of Paraíba during the biennium January 2015 and December 2016.
Anna Carolina D’ucarmo Bezerra +5 more
doaj +1 more source
Identification of a novel KIF11 variant p.(Leu804Thrfs Ter13) in a case with isolated microcephaly
Journal of Head & Neck Physicians and Surgeons, 2022 Microcephaly is a rare neurological condition, and it is characterized by a smaller head than other children of the same age and sex. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MLCRD) is a syndrome with a varying ...
Sinem Yalcintepe +4 more
doaj +1 more source
Genomic Analysis of Korean Patient With Microcephaly
Frontiers in Genetics, 2021 Microcephaly is a prevalent phenotype in patients with neurodevelopmental problems, often with genetic causes. We comprehensively investigated the clinical phenotypes and genetic background of microcephaly in 40 Korean patients.
Jiwon Lee +7 more
doaj +1 more source
Prevalence of congenital microcephaly and its risk factors in an area at risk of Zika outbreaks
BMC Pregnancy and Childbirth, 2021 Background Prevalence of neonatal microcephaly in populations without Zika-epidemics is sparse. The study aimed to report baseline prevalence of congenital microcephaly and its relationship with prenatal factors in an area at risk of Zika outbreak ...
Songying Shen +12 more
doaj +1 more source
Cellular and clinical impact of Haploinsufficiency for genes involved in ATR signaling [PDF]
, 2007 Ataxia telangiectasia and Rad3-related (ATR) protein, a kinase that regulates a DNA damage-response pathway, is mutated in ATR-Seckel syndrome (ATR-SS), a disorder characterized by severe microcephaly and growth delay.
Abraham +56 more
core +3 more sources