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A rare case of Beckwith–Wiedemann syndrome caused by a de novo microduplication...
Ferreira, Cristina; Marques, Bárbara; Alves, Cristina; Barbosa, Mafalda; Fortuna, Ana; Reis-Lima, Margarida; Correia, HildebertoBeckwith–Wiedemann syndrome (BWS) is a disorder of growth regulation exhibiting somatic overgrowth and predisposition to paediatric tumours. With an incidence estimated at 1 in 13,700, it is caused by various epigenetic and/or genetic alterations associated with disturbances within two different 11p15 domains that are controlled by distinct imprinting control regions (ICR), ICR1 and ICR2. The majority of patien...
Osteopathia striata with cranial sclerosis.
Barbosa, Mafalda; Perdu, Bram; Senra, Virgílio; Macedo, Filipe; Van Hul, Wim; Reis-Lima, Margarida; Pinto-Basto, JorgeWe report on a female patient who presented failure to thrive, laryngotracheomalacia, conductive deafness and facial dysmorphisms. A skeletal survey revealed thickening of the cranial vault, linear striations in the diametaphyses of all long bones and fan-like striations of the iliac bones. CT scan of the temporal bone showed thickening of the cranial base, sclerotic mastoids, abnormal ossicular fixation and st...
Exploring interpersonal dynamics between adults and motor disabled children wit...
Santos, Pedro Lopes dos; Teixeira, Luís; Azevedo, Maria; Barbosa, MafaldaThis paper focuses on interpersonal dynamics between the child with disabilities and the adult monitoring his/her performance in Aesthetic Resonance Environments. Drawing upon a social constructivist approach, a framework for human interactivity was checked against empirical data obtained from the exploratory implementation of an environment intending to stimulate body awareness and enhance movement in a group ...
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