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Fetal akinesia deformation sequence with pontocerebellar hypoplasia, and migration and gyration defects

Kapp, Meghan Elizabeth; Lyle, Pamela; Nickols, Hilary Highfield.
Autops. Case Rep; 11 (), 2021
Fetal akinesia deformation sequence (FADS), or Pena-Shokeir phenotype is a constellation of deformational changes resulting from decreased or absent fetal movement, and include arthrogryposis, and craniofacial and central nervous system anomalies. We report an autopsy case of a 36-6/7week female neonate ...
Cariotipo, Artrogriposis/patología, Autopsia, Fenotipo, Movimiento Fetal, Sistema Nervioso Central/anomalías, Cuerpo Calloso/patología
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Arthrogryposis multiplex congenita in Aberdeen Angus cattle in Uruguay

Romero, Agustín; Briano, Carolina; Quintela, Fernando Dutra.
Pesqui. vet. bras; 40 (6), 2020
Arthrogryposis multiplex congenita is reported for the first time in the Aberdeen Angus (AA) breed in Uruguay. In a commercial herd of 30 purebred Aberdeen Angus cows, two calves with severe musculoskeletal malformations died at birth. The cows had been inseminated using semen imported from Argentina fro...
Artrogriposis/veterinaria, Enfermedades de los Bovinos/congénito, Uruguay, Artrogriposis/patología, Atrofia Muscular/veterinaria
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Artrogripose: estudo comparativo - histoquímica e eletroneuromiografia
Artrogriposis: a comparative study - histochemistry and electroneuromyography

Masiero, Danilo; Schmidt, Beny; Nóbrega, Joäo A. M; Oliveira, Acary S. B; Laredo Filho, José; Atlas, Samoel.
Folha med; 102 (6), 1991
Säo analisados os resultados obtidos em 15 pacientes portadores da síndrome artrogripótica submetidos a biópsia por técnica histoquímica e comparados os achados com os resultados de exames eletroneuromiográficos. Fica demonstrada neste estudo uma evidência segura de que as desproporçöes e predo...
Artrogriposis/patología, Electromiografía