Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Neurology"
DOI: 10.1111/ene.15369
Abstract: Andersen–Tawil syndrome (ATS) is a skeletal muscle channelopathy caused by KCNJ2 mutations, characterized by a clinical triad of periodic paralysis, cardiac arrhythmias and dysmorphism. The muscle phenotype, particularly the atypical forms with prominent permanent weakness… read more here.
Keywords: phenotypical variability; andersen tawil; variability atypical; presentations french ... See more keywords
Atypical presentations of non-familial anterior megalophthalmos: a rare disease
Sign Up to like & getrecommendations! Published in 2021 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-244350
Abstract: Anterior megalophthalmos usually presents early in life with megalocornea, deep anterior chamber, raised intraocular pressure, glaucomatous optic nerve damage and iridodonesis/stromal thinning with positive family history. We report atypical features and presentations in two patients… read more here.
Keywords: atypical presentations; megalophthalmos rare; anterior megalophthalmos; familial anterior ... See more keywords