Case of Waardenburg Shah syndrome in a family with review of literature.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of otology"
DOI: 10.1016/j.joto.2018.05.005
Abstract: Abstract Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types. Waardenburg syndrome type 4, also called as Waardenburg… read more here.
Keywords: syndrome family; case waardenburg; review literature; family review ... See more keywords
Dwarfism in Troyer syndrome: a family with SPG20 compound heterozygous mutations and a literature review
Sign Up to like & getrecommendations! Published in 2019 at "Annals of the New York Academy of Sciences"
DOI: 10.1111/nyas.14229
Abstract: Troyer syndrome is an autosomal recessive disease characterized by spastic paralysis, dysarthria, distal amyotrophy, and short stature. Recently, two siblings (an older brother and a younger sister) were admitted to our hospital for the chief… read more here.
Keywords: syndrome family; spg20 compound; troyer syndrome; heterozygous mutations ... See more keywords
Stigmas of congenital Zika syndrome: family perspectives.
Sign Up to like & getrecommendations! Published in 2022 at "Cadernos de saude publica"
DOI: 10.1590/0102-311x00104221
Abstract: This article uses a socio-anthropological framework to explore the stigmas around interactions with children born with congenital Zika syndrome caused by the Zika virus epidemic in two Brazilian municipalities. Semi-structured interviews were conducted with parents… read more here.
Keywords: zika syndrome; stigmas congenital; congenital zika; syndrome family ... See more keywords