Results 61 to 70 of about 8,553 (167)

Biomechanics of foetal movement [PDF]

European Cells & Materials, 2015
Foetal movements commence at seven weeks of gestation, with the foetal movement repertoire including twitches, whole body movements, stretches, isolated limb movements, breathing movements, head and neck movements, jaw movements (including yawning ...
N.C. Nowlan
doaj  

Artrogriposis múltiple congénita en gemelo monocoriónico biamniótico: Reporte de caso y revisión de la literatura A case report of arthrogryposis multiplex congenita in monochorionic biamniotic twins

Revista Colombiana de Obstetricia y Ginecología, 2009
Introducción: la artrogriposis múltiple congénita es un grupo de desórdenes musculoesqueléticos de muy rara aparición, caracterizados por contracturas múltiples articulares, en los que se afectan los músculos de los miembros superiores, inferiores y del ...
Felipe Ruiz-Botero, Harry Pachajoa, Wilmar Saldarriaga, Carolina Isaza   +3 more
doaj  

Survival motor neuron (SMN) polymorphism in relation to congenital arthrogryposis in two Piedmont calves (piemontese)

Genetics Selection Evolution, 2003
The term arthrogryposis refers to a symptom complex that is characterised by congenital limb contractures. Arthrogryposis has been reported in man, in farm animals and in pets. Several forms have been reported to have a genetic origin in man.
Longeri Maria, Perrone Tania, Bongioni Graziella, Bona Marco, Zanotti Marta, Galli Andrea   +5 more
doaj   +1 more source

Analysis of congenital Zika syndrome clinicopathologic findings reported in the 8 years since the Brazilian outbreak

Exploration of Neuroprotective Therapy
Aim: A Zika virus outbreak that began in Brazil, developed into an international public health emergency that extended from February 2015 until November 2016.
Dhaara Shah, Dhairavi Shah, Olivia Mua, Rana Zeine   +3 more
doaj   +1 more source

Arthrogryposis, renal dysfunction, cholestasis syndrome with a novel mutation in two siblings

Clinical Case Reports
Key Clinical Message This current case series adds to the spectrum of Arthrogryposis renal dysfunction cholestasis (ARC)‐associated variants. Increased awareness and early genetic testing for ARC are suggested in cases with failure to thrive, renal ...
Rahiya Rehman, Leslia Gonzalez, Kelsey Kolbe, Mohammed Khurram Faizan, William Brucker, Carolina Cerezo   +5 more
doaj   +1 more source

Junctional Epidermolysis Bullosa In-utero with Pyloric Atresia and Aplasia Cutis Congenita (Carmi Syndrome): A Case Report

Journal of Clinical and Diagnostic Research
Carmi Syndrome (CS) is an extremely rare autosomal recessive genetic disorder characterised by the co-existence of Junctional Epidermolysis Bullosa (JEB), Pyloric Atresia (PA), and Aplasia Cutis Congenita (ACC).
Samuel Jeyaraj Daniel, Balaji Ganesh, S Saranya, K Desingh   +3 more
doaj   +1 more source

A New Case of PITX1-Related Mandibular–Pelvic–Patellar (MPP) Syndrome

Clinics and Practice
Background: The PITX1 gene encodes a transcription factor that plays a crucial role in the development of the lower limbs, pelvis, and structures derived from the first branchial arch.
Evgeniya Melnik, Ekaterina Petrova, Tatiana Markova, Ksenya Zabudskaya, Elena Dadali   +4 more
doaj   +1 more source

COG6‐related prenatal phenotype (CDG2L): Clinico‐pathological report and review of the literature

Molecular Genetics & Genomic Medicine
Background CDG2L (MIM#614576) is an autosomal recessive multisystemic disorder due to variants in COG6 gene. Postnatal phenotypes are now well described, while prenatal presentations remain poorly investigated.
Sarah Guterman, Agnese Feresin, Lucile Boutaud, Clémence Jacquin, Stanislas Lyonnet, Jean‐Pierre Bernard, Claire Colmant, Philippe Roth, Nicolas Bourgon, Pierre Mace, Alice Thoreau, Yves Ville, Joana Bengoa, Zaina Ait Arkoub, Cécile Fourrage, Ferechté Encha‐Razavi, Bettina Bessières, Tania Attié‐Bitach   +17 more
doaj   +1 more source

Content validity of mobility measures in arthrogryposis multiplex congenita: engaging clinicians and people with lived experience

Frontiers in Rehabilitation Sciences
IntroductionLower-extremity impairment is prevalent in children with Arthrogryposis multiplex congenita (AMC), frequently leading to mobility limitations.
Ahlam Zidan, Ahlam Zidan, Laurie Snider, Jaclyn Sions, Kristen Donlevie, Alexa Cirillo, Verity Pacey, Noémi Dahan-Oliel, Noémi Dahan-Oliel   +8 more
doaj   +1 more source

Multiple congenital malformations in a litter of feline fetuses associated with gestational exposure to a synthetic estrus-suppressing progestin. [PDF]

BMC Vet Res
Lacerda WK, Fernandes ALP, de Sousa MS, de Gusmão PLC, Carvalho LRRA, Lucena RB.   +5 more
europepmc   +1 more source