3 documents found, page 1 of 1
Intellectual disability, coarse face, relative macrocephaly, and cerebellar hyp...
Sousa, SB; Ramos, F; Garcia, P; Pais, RP; Paiva, C; Beales, PL; Moore, GE; Saraiva, JM; Hennekam, RCWe report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia. Additional common features include increased thickness of the cranial vault, delayed dental eruption, talipes equino-varus, clinodactyly, and camptodactyly of the fifth finger. The older sister has retinal ...
MÓDULO 4 - Cirurgia, Anestesiologia, Ortopedia, Neurocirurgia, Oftalmologia e ORL
Brito, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Ribeiro, P; Neves, S; Cunha, C; Horta, P; Seabra, J; Conceição, V; Paiva, C; Monteiro, M
Myopathy caused by hypothyroidism.
Paiva, C; Mouro, A M; Luís, M L; Fonseca, F; Quina, MThe authors report a case of primary hypothyroidism where the main symptoms were caused by muscular lesions and disappeared after treatment with L-thyroxine. Based on this case study the authors then review both the clinical aspects and the diagnostical methods of hypothyroidism myopathy, noting its frequency, be it in terms of isolated laboratory changes or in terms of functional changes.; The authors report a...