Experiences of children and adolescents living with achondroplasia and their caregivers
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1891
Abstract: Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), leads to significant multisystem complications across the lifespan that may affect the health‐related quality of life (HRQoL) of individuals and… read more here.
Keywords: experiences children; adolescents living; achondroplasia; living achondroplasia ... See more keywords
Endoscopic third ventriculostomy for hydrocephalus in a patient with achondroplasia: a case report and literature review
Sign Up to like & getrecommendations! Published in 2021 at "Child's Nervous System"
DOI: 10.1007/s00381-021-05129-4
Abstract: Hydrocephalus, a complication of achondroplasia, requires treatment when it is symptomatic. Hydrocephalus associated with achondroplasia is often treated with ventriculoperitoneal shunting, and endoscopic third ventriculostomy (ETV) is rarely performed in these patients. Here, we report… read more here.
Keywords: endoscopic third; case; report; achondroplasia ... See more keywords
The maid of the Bridal Room by Andrea Mantegna (1431–1506) shows evidence of hypopituitary dwarfism and neurofibromatosis type-1
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2017.07.029
Abstract: We read with interest the letter of Benedicenti and Superti-Furga “Themultiple faces of artwork diagnoses” [1], which challenges our previous diagnosis of neurofibromatosis type-1 and hypo-pituitary dwarfism [2] in the maid depicted by Andrea Mantegna's… read more here.
Keywords: hypopituitary dwarfism; dwarfism; bridal room; neurofibromatosis type ... See more keywords