3 documents found, page 1 of 1
Perthes-Like Disease Masquerading Non-Classical MPS
Souza,Carolina F.M.; Siqueira,Ana Cecília; Antunes,Natália S.; Horovitz,Dafne D.G.; Politei,Juan; Lourenço,Charles M.; Doriqui,Maria Juliana RodovalhoAbstract Mucopolysaccharidoses (MPS) are inborn errors of metabolism caused by deficient lysosomal enzymes, leading to organomegaly, hip osteonecrosis, coarse facial features, bone deformities, joint stiffness, cardiac and pulmonary symptoms (MPS VI) or hypermobility (MPS IVA). Some patients may present with non-classical forms of the disease in which osteoarticular abnormalities are the initial symptoms of non...
Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 ...
Poloni,Soraia; Hoss,Giovana W.; Sperb-Ludwig,Fernanda; Borsatto,Taciane; Doriqui,Maria Juliana R.; Leão,Emília K.E.A; Boa-Sorte,Ney; Lourenço,Charles M.Abstract This study described a broad clinical characterization of classical homocystinuria (HCU) in Brazil. This was a cross-sectional, observational study including clinical and biochemical data from 72 patients (60 families) from Brazil (South, n = 13; Southeast, n = 37; Northeast, n = 8; North, n = 1; and Midwest, n = 1). Parental consanguinity was reported in 42% of families. Ocular manifestations were the...
Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes
Mazzeu,Juliana F.; Krepischi-Santos,Ana Cristina; Rosenberg,Carla; Lourenço,Charles M.; Lezirovitz,Karina; Szuhai,Karoly; Martelli,Lúcia R.Chromosomal rearrangements involving partial deletion of the short arm of chromosome 4 and partial duplication of the short arm of chromosome 8 have been described both in Pitt-Rogers-Danks syndrome (PRDS) and Wolf-Hirschhorn syndrome (WHS), the former being considered a milder phenotype of the latter. We describe a patient with partial deletion of chromosome 4 and partial duplication of chromosome 8 documented...