BACKGROUND Exercise is associated with age‐related penetrance and arrhythmic risk in carriers of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)‐associated desmosomal mutations; however, its role in patients without desmosomal mutations (gene‐elusive) is uncertain. This study investigates whether exercise is (1) associated with onset of gene‐elusive ARVD/C and (2) has a diffe...

Cases of metaphysial dysplasia have been recorded by Pyle (1931), Bakwin and Krida (1937) and Hermel, Gershon-Cohen and Jones (1953). Jansen (1934) described a form of metaphysial dysplasia which he termed metaphysial dysostosis. Similar cases were reported by Cameron, Young and Sissons (1954), Lenk (1956), Maroteaux and Lamy (1960), Evans and Caffey (1958), and Gram, Fleming, Frame and Fine (1...

Hereditary ectodermal dysplasia is an inherited disorder involving skin, hair, nails and teeth. Two main clinical forms have been described--hypohidrotic type and hidrotic type. A case of ectodermal dysplasia with absence of hypohidrosis and defective nails has been reported. The importance of early prosthetic management has been discussed.

Fibrous dysplasia (FD) is an uncommon skeletal disorder in which normal bone is replaced by abnormal fibro-osseous tissue. Mainly, FD is found in children, and by adulthood it usually becomes quiescent. Our case showed FD of more than 14-year duration in the left maxilla. Our evaluation was that growth ceased in adulthood and had achieved the static stage. Because FD cases in elderly patients a...

An unusual osteochondrodysplasia presenting with lethal neonatal short limbed dwarfism, defective ossification, and punctate calcification within cartilage is presented. The features resemble four cases previously described with Astley-Kendall dysplasia.

Radiol Bras. 2017 Jan/Fev;50(1):62–68 63 http://dx.doi.org/10.1590/0100-3984.2015.0118 Glaucio Rodrigo Silva de Siqueira, Marcos Duarte Guimarães, Luiz Felipe Sias Franco, Rafaela Batista e Silva Coutinho, Edson Marchiori 1. Hospital Heliópolis, São Paulo, SP, Brazil. 2. A.C.Camargo Cancer Center, São Paulo, SP, Brazil. 3. Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazi...

EDITOR,-Immunodeficiency has been previously described in patients with ectodermal dysplasial; surprisingly it was not mentioned at all in the recent review article on ectodermal dysplasia in this journal.2 Immunodeficiency is not a constant feature in all patients with ectodermal dysplasia, it is often transient and variable and no consistent T or B cell abnormality has been found.' The exact ...

Trochleoplasty is the theoretical solution to persistent symptoms (pain and/or instability) related to trochlear dysplasia where there is not only a trochlear flatness but also a trochlear prominence. The threshold of prominence indicating surgical intervention has as yet not been determined. A bump of 5 mm is generally accepted as the inferior limit. Given the interventional nature of this dem...

1Departments of Pediatrics and Pharmacology, Center for Investigation in Pediatrics, State University of Campinas Medical School, Campinas SP, Brazil; 2Laboratory of Human Genetics of Infectious Diseases, Inserm, U550, University of Paris René Descartes, Necker Medical School, Paris, France; 3Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil;...