Results 21 to 30 of about 12,612 (220)

Acrania-exencephaly-anencephaly sequence

Journal of Dr. NTR University of Health Sciences, 2021
Acrania–exencephaly–anencephaly sequence is rare forms of neural tube defects. The progression is from a relatively normal-appearing exposed brain due to an absent cranium called as acrania, to an amorphous brain mass term as exencephaly.
Sunil Vitthalrao Jagtap, Swati S Jagtap, Kaushiki Varshney, Parneet Kaur, Ramnik Singh   +4 more
doaj   +1 more source

Genetics of human neural tube defects [PDF]

, 2009
Neural tube defects (NTDs) are common, severe congenital malformations whose causation involves multiple genes and environmental factors. Although more than 200 genes are known to cause NTDs in mice, there has been rather limited progress in delineating ...
A. J. Copp, Au, Beaudin, Beaudin, Bennett, Birn, Blom, Boyles, Brody, Brown, Carmichael, Carroll, Carroll, Chen, Chen, Chen, Christensen, Christensen, Cockroft, Copp, Copp, Dalal, Davidson, De Marco, De Marco, Deak, Deak, Detrait, Doudney, Dunlevy, Dunlevy, Elmore, Enaw, Epstein, Estibeiro, Etheridge, Franke, Frosst, Gelineau-van Waes, Gonzalez-Herrera, Gos, Greene, Greene, Greene, Greene, Gustavsson, Gustavsson, Harris, Harris, Jensen, Jensen, Jensen, Jessen, Joosten, Kennedy, Khandelwal, Kibar, Kibar, Kibar, Kibar, King, Kirke, Krasnow, Lakkis, Li, Li, Lorenz, Lu, Lu, Lu, McEwen, Mills, Mitchell, Molloy, Montcouquiol, Murdoch, Murdoch, Murdoch, N. D.E. Greene, Narimatsu, Neumann, O'Leary, O'leary, Okano, P. Stanier, Park, Parker, Parle-McDermott, Parle-McDermott, Qian, Relton, Relton, Scott, Shang, Shaw, Shields, Smithells, Stamm, Stamm, Steegers-Theunissen, Stegmann, Strutt, Strutt, Stumpf, Swanson, Swanson, Ting, Toepoel, Trembath, van der Linden, van der Linden, van der Linden, van der Linden, van der Put, van Straaten, Vanaerts, vandenBerg, Vieira, Volcik, Wallingford, Wang, Watanabe, Wilding, Wilson, Wu, Zhang, Zhu, Zhu, Zhu, Zhu, Zhu, Zohn   +131 more
core   +2 more sources

Craniospinal rachischisis with multiple anomalies in an anencephalic fetus: A rare case report

Journal of the Scientific Society, 2014
Neural tube defects (NTDs) are the most common malformations accounting for 0.5-1.3 cases/1000 live births with multifactorial etiology. Anencephaly and craniospinal rachischisis are open NTDs.
Hema Basappa Bannur, Vijayalaxmi V Suranagi, Reshma Davanageri, Ganga S Pilli   +3 more
doaj   +1 more source

Involvement of deprivation and environmental lead in neural tube defects:a matched case-control study. [PDF]

, 2009
OBJECTIVE. To analyse the prevalence of neural tube defects in small geographical areas and seek to explain any spatial variations with reference to environmental lead and deprivation. SETTING.
Awwad, Fuad, Bound, John P., Francis, Brian J., Gatrell, Tony, Harvey, Peter W.   +4 more
core   +1 more source

Risk Factors of Anencephaly: A Case–Control Study in Dessie Town, North East Ethiopia

Pediatric Health, Medicine and Therapeutics, 2021
Melese Abebe,1 Mekbeb Afework,2 Bahru Emamu,3 Demissie Teshome4 1Department of Anatomy, School of Medicine, College of Health Science, Wollo University, Dessie, Ethiopia; 2Department of Anatomy, School of Medicine, College of Health Sciences, Addis Ababa
Abebe M, Afework M, Emamu B, Teshome D
doaj  

Rare association of cyclopia with craniospinal rachischisis

Indian Journal of Pathology and Microbiology, 2019
Cyclopia is a severe form of holoprosencephaly which results in children being born with just one eye, absence of nose and presence of a proboscis above the median eye. Incidence of cyclopia is around 1.05 in 1, 00,000 births, including stillbirths.
Lynda D Rodrigues, Surekha U Arakeri, Raga S Dwarampudi   +2 more
doaj   +1 more source

Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis

Case Reports in Obstetrics and Gynecology, 2018
Sirenomelia is a rare congenital malformation characterized by varying degrees of fusion of the lower extremities. It is commonly associated with severe urogenital and gastrointestinal malformations; however, the association of sirenomelia with ...
Takako Sugiura, Yuka Sato, Naoyuki Nakanami, Kiyomi Tsukimori   +3 more
doaj   +1 more source

Rare and severe neural tube defect: Craniorachischisis totalis

Clinical Case Reports, 2022
Craniorachischisis totalis is an uncommon and severe form of neural tube defect. It is characterized by anencephaly and spina bifida throughout the vertebral column accompanied by herniation of neural tissue and meninges.
Faten Limaiem, Kaouther Dimassi
doaj   +1 more source

Study of Central Nervous System Malformations of Perinatal Autopsies [PDF]

Perspectives In Medical Research, 2023
Background: Congenital malformations remain a common cause of perinatal deaths accounting for 10-15% in developing countries like India. They are the most severe disorders of the central nervous system.
Anuradha G Patil, Shweta Ghatapanadi, Safura Batul, Anita A M   +3 more
doaj   +1 more source

Whole-Exome Sequencing Identifies Damaging de novo Variants in Anencephalic Cases

Frontiers in Neuroscience, 2019
BackgroundAnencephaly is a lethal neural tube defect (NTD). Although variants in several genes have been implicated in the development of anencephaly, a more complete picture of variants in the genome, especially de novo variants (DNVs), remains ...
Linlin Wang, Aiguo Ren, Tian Tian, Nan Li, Xuanye Cao, Peng Zhang, Lei Jin, Zhiwen Li, Yan Shen, Bo Zhang, Richard H. Finnell, Yunping Lei   +11 more
doaj   +1 more source