Results 41 to 50 of about 29,711 (184)
Amniotic Band Syndrome (distruption)
Sari Pediatri, 2016 Amniotic band syndrome (ABS) merupakan kelainan genetik yang mempunyai variasi yang luas. Insidens ABS sekitar satu per 10000 kelahiran hidup. Selama ini telah dilaporkan sekitar 600 kasus di luar negeri.
Edi Hartoyo, Ari Yunanto
doaj +1 more source
International Journal of Reproduction Contraception Obstetrics and Gynecology, 2023 The amniotic band syndrome can cause a wide range of anomalies and the most common associated anomalies include amputations, constriction bands, encephalocele, acrania, syndactyly, craniofacial defects, club feet and cleft lip.
Rita D., Pushpalatha V. S.
semanticscholar +1 more source
Journal of Pediatric Surgery Case Reports, 2021 Amniotic Band Syndrome (ABS) or Constriction Band Syndrome, is a rare entity of congenital malformations characterized by various clinical manifestations.
Fatimah I. Alabdrabalnabi +6 more
doaj +1 more source
Amniotic Band Sequence - A Debilitating Syndrome
Journal of Nepal Medical Association, 2012 A male baby was delivered by Caesarean section at term to a 35 years second gravida lady with fibroid uterus. The mother was booked and immunized and not on any medication. Antenatal and natal periods including serial ultrasounds were normal.
R Uma, A Garg, S K Patnaik
doaj +3 more sources
Genetic Analysis of Pitt-Hopkins Syndrome Caused by a Novel Splicing Variant (c.1146+3A>T) in the TCF4 Gene. [PDF]
Mol Genet Genomic MedA novel pathogenic splicing variant (TCF4c.1146+3A>T) was identified in a fetus with increased nuchal translucency. The variant disrupts normal splicing, causing exon 14 skipping and protein truncation, which is consistent with Pitt–Hopkins Syndrome.
Shen W +5 more
europepmc +2 more sources
Journal of Diagnostic Medical Sonography, 1994 Amniotic band syndrome (ABS) is an uncommon, nonrecurrent cause of fetal malformations of the visceral region, craniofacial region, and extremities. Although the cause of ABS is still debated, accepted theories about why this syndrome occurs are discussed.
Sonya McFerrin Richardson +2 more
openaire +1 more source
Clubfeet and congenital constriction band syndrome
European Journal of Medical Research, 2021 Background Clubfeet and constriction band syndrome is a very rare non-idiopathic condition. Treatment is often difficult and the recurrence deformity rate is high.
Bujar Shabani, Dafina Bytyqi, Cen Bytyqi
doaj +1 more source
Essential embryology for the Canadian pathologists’ assistant
Anatomical Sciences Education, EarlyView.Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci +4 more
wiley +1 more source
Amniotic band syndrome and limb body wall complex in Europe 1980–2019
American Journal of Medical Genetics. Part A, 2022 Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown.
J. Bergman +35 more
semanticscholar +1 more source
Structural and Functional Imaging of Motor Outcomes in Twins With Perinatal Stroke: A Case Report
Annals of the Child Neurology Society, EarlyView.ABSTRACT Background Perinatal arterial ischemic stroke (AIS) affects 1 in 4000 live births. Dystonia, affecting ~20% of children following AIS, is characterized by involuntary muscle contractions and abnormal movements. Why some develop dystonia post AIS, while others do not, remains unclear.
Prisca Hsu +8 more
wiley +1 more source