نتایج جستجو برای: microcephaly

تعداد نتایج: 3104  

2009
Alexandra Tibelius Joachim Marhold Hanswalter Zentgraf Christoph E. Heilig Heidemarie Neitzel Bernard Ducommun Anita Rauch Anthony D. Ho Jiri Bartek Alwin Krämer

Primary microcephaly, Seckel syndrome, and microcephalic osteodysplastic primordial dwarfism type II (MOPD II) are disorders exhibiting marked microcephaly, with small brain sizes reflecting reduced neuron production during fetal life. Although primary microcephaly can be caused by mutations in microcephalin (MCPH1), cells from patients with Seckel syndrome and MOPD II harbor mutations in ataxi...

Journal: :Birth defects research. Part A, Clinical and molecular teratology 2016
Janet D Cragan Jennifer L Isenburg Samantha E Parker C J Alverson Robert E Meyer Erin B Stallings Russell S Kirby Philip J Lupo Jennifer S Liu Amanda Seagroves Mary K Ethen Sook Ja Cho MaryAnn Evans Rebecca F Liberman Jane Fornoff Marilyn L Browne Rachel E Rutkowski Amy E Nance Marlene Anderka Deborah J Fox Amy Steele Glenn Copeland Paul A Romitti Cara T Mai

BACKGROUND Congenital microcephaly has been linked to maternal Zika virus infection. However, ascertaining infants diagnosed with microcephaly can be challenging. METHODS Thirty birth defects surveillance programs provided data on infants diagnosed with microcephaly born 2009 to 2013. The pooled prevalence of microcephaly per 10,000 live births was estimated overall and by maternal/infant cha...

2014
Jian-Fu Chen Ying Zhang Jonathan Wilde Kirk Hansen Fan Lai Lee Niswander

Human genetic studies have established a link between a class of centrosome proteins and microcephaly. Current studies of microcephaly focus on defective centrosome/spindle orientation. Mutations in WDR62 are associated with microcephaly and other cortical abnormalities in humans. Here we create a mouse model of Wdr62 deficiency and find that the mice exhibit reduced brain size due to decreased...

2017
Julu Bhatnagar Demi B. Rabeneck Roosecelis B. Martines Sarah Reagan-Steiner Yokabed Ermias Lindsey B.C. Estetter Tadaki Suzuki Jana Ritter M. Kelly Keating Gillian Hale Joy Gary Atis Muehlenbachs Amy Lambert Robert Lanciotti Titilope Oduyebo Dana Meaney-Delman Fernando Bolaños Edgar Alberto Parra Saad Wun-Ju Shieh Sherif R. Zaki

Zika virus is causally linked with congenital microcephaly and may be associated with pregnancy loss. However, the mechanisms of Zika virus intrauterine transmission and replication and its tropism and persistence in tissues are poorly understood. We tested tissues from 52 case-patients: 8 infants with microcephaly who died and 44 women suspected of being infected with Zika virus during pregnan...

Journal: :American journal of medical genetics. Part A 2007
Anna Rajab M Chiara Manzini Ganeshwaran H Mochida Christopher A Walsh M Elizabeth Ross

We report on four patients from the same family affected by a lethal form of autosomal recessive microcephaly of prenatal onset. Symptoms include low birth-weight and length with disproportionately small head, fetal distress, apnea, seizures and facial features reminiscent of Amish microcephaly and Bowen-Conradi syndrome. Brain imaging revealed a simplified gyral pattern with normal to slightly...

Journal: :Malang Neurology Journal 2022

Background: Microcephaly is a condition that causes reduction in brain volume as well cognitive and motor impairments. It can be seen alone or conjunction with variety of genetic disorders environmental factors. still poorly defined condition, identifying the etiological critical for providing counseling, preventing potential consequences. Objective: The aim this study was to assess etiology, d...

2017
Ping Wu Erica L Mc Grath

Zika virus (ZIKV) is a flavivirus transmitted by the Aedes aegypti and Aedes albopictus mosquitoes with recent outbreaks in the Americas, and 84 countries and territories reporting active ZIKV transmission [1-3]. One of the greatest concerns regarding ZIKV infection is the risk of microcephaly. Microcephaly is a neurodevelopmental disorder characterized by a head size less than 2 standard devia...

Journal: :middle east journal of digestive diseases 0
majid malaki mandana rafeey

in this case report, we present the first diagnosed case of galloway- mowat syndrome in iran. a 7 month old infant boy with microcephaly that had prominently stunted head growth after birth, gastroesophageal reflux, multiple craniofascial characters, hypothyroidism and nephrotic syndrome diagnosed at 5 months of age associated with rapid decline in renal function and heavy proteinuria in 2 mont...

Journal: :REME: Revista Mineira de Enfermagem 2015

Journal: :Medical Journal of Dr. D.Y. Patil University 2015

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