Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome.
Am J Med Genet C Semin Med Genet
; 187(2): 219-223, 2021 06.
Article
en En
| MEDLINE
| ID: mdl-33982836
ABSTRACT
Just over a century ago, Dr. Gertrud Hurler described what is now commonly called Hurler syndrome. This rare inherited condition became known by terms describing its cardinal physical signs; the eponymous name was not proposed. In 1936, Ellis et al. coined the term "gargoylism" to name the syndrome. We propose that the film The Hunchback of Notre Dame played a key role in the original association of Hurler syndrome with the architectural figures known as gargoyles and with the persistence of the term. Over time, due in large part to its extremely negative connotations and lack of accuracy, "gargoylism" was abandoned. It has been supplanted by a sophisticated clinical understanding of mucopolysaccharidosis type 1 (MPS1), the underlying enzymatic defect, and dramatic advances in early diagnosis and treatment.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Mucopolisacaridosis I
Tipo de estudio:
Diagnostic_studies
/
Screening_studies
Límite:
Humans
Idioma:
En
Revista:
Am J Med Genet C Semin Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2021
Tipo del documento:
Article
País de afiliación:
Estados Unidos