An infant with blended phenotype of zellweger spectrum disorder and congenital muscular dystrophy
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_1108_20
Abstract: We report a newborn born to a consanguineous couple with antenatally detected dilatation of third ventricle, unilateral talipes, and intra uterine growth retardation. On examination, there was facial dysmorphism, hypotonia, encephalopathy, joint laxity and muscle… read more here.
Keywords: blended phenotype; infant blended; muscular dystrophy; congenital muscular ... See more keywords