The journey of pregnancy: a qualitative study on the lived experiences of women with dwarfism. [PDF]
BMC Pregnancy ChildbirthBackground Due to being short, a series of persistent misconceptions, such as being incapable of sexual activity, unsuitable for reproduction, and having a high chance of genetically transmitting dwarfism to offspring, predominantly exist over women with
Nassar Z, Srinivasan SK, Pradhan MR.
europepmc +2 more sources
Disabilities and Handicaps of Patients with Laron Syndrome. [PDF]
Children (Basel)Background: Laron Syndrome (LS) is a rare hereditary form of dwarfism occurring, with few exceptions, in Jewish, Muslim, and Asian populations or their descendants spread over all continents. It is caused by deletions or mutations in the GH-Receptor gene,
Laron Z.
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"Get down on your knees": Representing the Seven Dwarfs in the Pantomime
Disability Studies Quarterly, 2022 Dwarfs are prominent figures within the entertainment industry, but there is limited academic focus on representations of them in the theatre. In this paper, I explore one of the most prominent representations of dwarfism in the theatre: Snow White and ...
Erin Pritchard
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Snow White and the Seven Dwarfs: a fairytale for endocrinologists
Endocrine Connections, 2021 ‘Snow White and the Seven Dwarfs’, a fairytale that is widely known across the Western world, was originally written by the Brothers Grimm, and published in 1812 as ‘Snow White’.
Athanasios Zervas +2 more
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Les Nouvelles de l’Archéologie, 2021 Mexican and Peruvian art of the Pre-Columbian and colonial period is full of information on the way in which handicaps were perceived in the Aztec and Inca cultures.
Nathalie Brown
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Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome [PDF]
, 2012 A homozygous mutational change in the Ataxia-Telangiectasia and RAD3 related (ATR) gene was previously reported in two related families displaying Seckel Syndrome (SS). Here, we provide the first identification of a Seckel Syndrome patient with mutations
A Ciccia +52 more
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The Intersection of Dwarfism and Gender in Alisa’s Tale: Raising Awareness through Graphic Narrative
The Comics Grid: Journal of Comics Scholarship, 2022 This note explores how the experiences of people with dwarfism are explored in the comic Alisa’s Tale (A short story) by Al Davison (2013). The aim is to discuss how the comic educates readers about the lived experiences of people with dwarfism ...
Erin Pritchard
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Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]
, 2015 We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire +29 more
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Beauty and ugliness as endocrine pathology: a look through the prism of history and art
Клинический разбор в общей медицине, 2023 Throughout history, people have reacted differently to various physical abnormalities that develop in the absence of treatment and progression of diseases of the endocrine system. From antiquity until relatively recently, some manifestations of endocrine
Kseniya O. Samsonova
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Schwartz–jampel syndrome: Clinical and diagnostic phenotype of a rare genetic disorder
Archives of Medicine and Health Sciences, 2016 The distinctive phenotypic, clinical, skeletal characteristics with the typical electrophysiological features of an 11-year-old male child who presented to the neurology outpatient service are described, with the objective of emphasizing the diagnostic ...
Bhaskara P Shelley, U S Vinayaka
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