Materiały źródłowe

• #1 Dwarfism (Restricted Growth): Types and Causes

  https://patient.info/bones-joints-muscles/restricted-growth-dwarfism

  Dwarfism is a medical or genetic condition which causes people to have restricted growth so that they are shorter than average. Specifically, people with dwarfism grow no higher than 4 ft 10 ins (147 cm). […] It is estimated that dwarfism occurs somewhere between one in every 15,000 and one in every 40,000 children born. […] Achondroplasia is the most common cause. It is the cause in 7 out of 10 people with the condition.

• #2 Short Stature: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/913843-workup

  By definition, 2.5% of the population is short. However, the number of children with poor linear growth is higher given the frequency of chronic diseases of childhood. The Utah Growth Study, a large, population-based survey, assessed height and growth velocity in nearly 115,000 American children. Among the 555 children with short stature (defined as height below the third percentile) and poor growth rate (defined as growth velocity 5 cm annually), only 5% had an endocrine disorder. In addition, 48% of the children with growth hormone deficiency (GHD) or Turner syndrome (TS) in this large cohort had been undiagnosed or untreated. […] Parents often suspect an endocrine disorder (eg, GHD) as the major cause of short stature in their child. In fact, the Utah Growth Study confirms that most (95%) children with poor growth (velocity 5 cm/y) do not have an endocrine disorder. […] Unfortunately, malnutrition remains the most common cause of GF worldwide. Supporting lay and professional efforts to reverse this preventable cause of short stature in besieged communities must be a high priority of all governments and health care professionals.

• #3 Achondroplasia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/achondroplasia/

  Achondroplasia is the most common type of short-limbed dwarfism. The condition occurs in 1 in 15,000 to 40,000 newborns. […] Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 80 percent of people with achondroplasia are born to parents who do not have the condition and are of average heights; these cases are caused by new variants in the FGFR3 gene.

• #4 Achondroplasia Market Size, Trends | Forecast 2025-2035

  https://www.imarcgroup.com/achondroplasia-market

  Achondroplasia is a disease of bone development that results in disproportionate dwarfism. […] Achondroplasia affects 1 in 15,000 to 1 in 40,000 births, making it the most common short-limb dwarfism condition worldwide. […] A mutation in the FGFR3 gene disrupts cartilage-to-bone conversion, impairing bone growth, particularly in the arms and legs. […] Complications include apnea, ear infections, obesity, and spinal stenosis, requiring regular medical monitoring and early intervention for effective management. […] The achondroplasia market is underpinned primarily by its increasing prevalence and the ongoing development of targeted therapies to alter disease course. […] The report also provides the current and future patient pool across the seven major markets. […] What is the number of prevalent cases (2019-2035) of achondroplasia across the seven major markets?

• #5 Achondroplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559263/

  Achondroplasia occurs in approximately 1:20,000 to 1:30,000 live births per year. The global prevalence is difficult to ascertain; however, it is estimated to affect approximately 1 to 9 individuals per 100,000 of the general population. The most extensive European population-based epidemiological study known to date calculated the prevalence to be 3.72 per 100,000 births. The study demonstrated prevalence was stable over time, yet regional differences were appreciated. As achondroplasia follows an autosomal dominant inheritance pattern, both males and females are equally affected. […] The estimated occurrence rate for this form of skeletal dysplasia in children of fathers over 50 years of age is 1 in 1,875, much higher when compared to the frequency of approximately 1 in 15,000 in the general population. Fathers with ages 35 or older had significantly increased rates of affected offspring. […] Increased vigilance is required in both the evaluation and surveillance of this condition.

• #6 Achondroplasia | Doctor

  https://patient.info/doctor/achondroplasia

  Achondroplasia is apparent at birth and has a birth prevalence of 1 in 20,000-30,000 live-born infants. Although it is inherited as an autosomal dominant condition, 80% of cases occur sporadically. […] Incidence increases with paternal age. […] For couples of average stature who have a child with achondroplasia, the risk of recurrence is less than 1%, reflecting the risk of germline mosaicism.

• #7 Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: A Review

  https://www.mdpi.com/1422-0067/22/11/5573

  Achondroplasia is a genetic disorder that belongs to a large group of SDs (skeletal dysplasias) that results in a disproportionate body structure and short stature. The disease is rare and estimated to affect approximately 250,000 people around the world. […] A comprehensive meta-analysis of the data on the worldwide prevalence of achondroplasia was recently carried out, in which publications from the last half-century were analyzed. The authors of this review estimated a disease prevalence of 4.6 per 100,000 births, and they noted large regional variation, i.e., higher rates in North Africa and the Middle East than in North America, South America or Europe. However, a limitation of this analysis was the differences in the methodological quality of the compared studies. […] A meta-analysis containing data from a multicenter study in Europe shows that the achondroplasia prevalence is 3.72 per 100,000 births. The authors analyzed 434 cases, including 350 live births, 82 post-diagnosis pregnancy terminations and 2 intrauterine deaths of the fetus. Among the 208 infants in this study with a known family medical history, a de novo mutation in the FGFR3 gene was the cause of achondroplasia in 166 cases (79.8%), and family-related prevalence of the disease was confirmed in only 42 (20.2%) cases. […] Due to the more frequent diagnosis of skeletal dysplasia recently and an increased risk of sudden infant death, it is very important to understand this disease entity.

• #8 Achondroplasia: Causes and chances of inheritance

  https://www.medicalnewstoday.com/articles/achondroplasia

  Dwarfism refers to restricted growth that is due to medical or genetic causes. […] Achondroplasia can pass through families because parents pass genes on to their children. […] Research suggests that about 1 in every 15,000 children will have the condition. However, 1 in every 1,875 children whose fathers are over the age of 50 years at the time of their birth will have some form of skeletal dysplasia. […] A comprehensive 2020 review of the evidence suggests that achondroplasia is more common in certain parts of the world, such as North Africa, sub-Saharan Africa, and the Middle East. However, the authors state that the quality of data from these regions is poor and that more research is necessary.

• #9 Dwarfism – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK563282/

  In the United States, 2.5 percent of the population is short. […] The Utah Study, a population-based survey of growth in children, concluded that endocrine disorders constitute only a small number of cases with short stature. […] Different ethnic groups have different average statures, which are essential to take into consideration while comparing mean parameters. […] Malnutrition is a notable etiology of retarded growth in kids, especially in developing countries. Many efforts have been in process by the government and non-profit organizations to curb this.

• #10

  https://www.orthobullets.com/pediatrics/4094/achondroplasia

  Achondroplasia is a common congenital skeletal dysplasia caused by a sporadic or autosomal dominant gain-of-function mutation in FGFR3 gene. Patients present with rhizomelic dwarfism, lumbar and foramen magnum stenosis, frontal bossing, and normal intelligence. […] Epidemiology: Incidence: most common skeletal dysplasia, 80-90% of cases of dwarfism. […] Prevalence: 1 in 15,000-30,000. […] Demographics: no gender predominance, most diagnosed in early infancy and in utero. […] Risk factors: advanced paternal age, 50 years of age is 1 in 1,875, 35 years of age still increased risk.

• #11 Achondroplasia: Update on diagnosis, follow-up and treatment | Anales de Pediatría

  https://www.analesdepediatria.org/en-achondroplasia-update-on-diagnosis-follow-up-articulo-S2341287922002228

  Achondroplasia requires multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of life of people who suffer from it and favoring their independence and social inclusion. […] Different guidelines and recommendations have been developed to optimise the follow-up of achondroplasia, of which the most important are the recommendations of the American Academy of Pediatrics, published in 2005 and recently updated, the Japanese clinical practice guidelines, the first European consensus on principles of management for achondroplasia and the International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. […] However, despite these recommendations, there is substantial variability worldwide in the management of individuals with achondroplasia, which has deleterious medical, functional and psychosocial consequences on the patients and their families.

• #12 Achondroplasia: Update on diagnosis, follow-up and treatment | Anales de Pediatría

  https://www.analesdepediatria.org/en-achondroplasia-update-on-diagnosis-follow-up-articulo-S2341287922002228

  Therefore, these recommendations must be implemented in everyday clinical practice, adapting them to the specific circumstances of each health care system. […] Multidisciplinary follow-up is required from diagnosis, as achondroplasia is associated with increased morbidity and potentially fatal complications and therefore affected patients may benefit from a scheduled follow-up plan. […] The First European Consensus and the International Consensus recommendations, both published in 2021, underscore this aspect, especially for the first 2 years of life. […] The main goals of care are to anticipate, detect and manage complications and to support autonomy, quality of life and independence. […] Ongoing monitoring and expert management is also recommended through and beyond adolescence, including the transition to adulthood, genetic counselling and pregnancy management.

• #13 Achondroplasia: Update on diagnosis, follow-up and treatment | Anales de Pediatría

  https://www.analesdepediatria.org/en-achondroplasia-update-on-diagnosis-follow-up-articulo-S2341287922002228

  The American Association of Pediatrics has published a timeline for the health supervision of people with achondroplasia through the lifespan, with screening at each time point requiring anthropometric measurements, a physical examination, a neurological examination and an otorhinolaryngology evaluation. […] It is also important to watch for signs of complications in order to anticipate them.

• #14 Stories of Surveillance and Resistance: Young People with Dwarfism and Teaching Assistants in Secondary Schools in the United Kingdom in: Journal of Disability Studies in Education Volume 4 Issue 1 (2024)

  https://brill.com/view/journals/jdse/4/1/article-p1_001.xml?srsltid=AfmBOoqoEMSsrZhNUqL1jQncsK02sMfRPF2Hp5R8Iqww78Tx4s4HlaBS

  Teaching Assistants (tas) are described as key figures in the inclusion of disabled young people in mainstream schools. However, disabled young peoples insights into tas support remain limited. This paper contributes to such insights by exploring the experiences of young people with dwarfism in secondary education with their tas in the United Kingdom, drawing on their qualitative, first-hand accounts. I engage in a Foucauldian analysis of tas support, where I argue that, under the guise of support, disabled young people sustain tas panoptic surveillance, aiming at their normalisation. Nevertheless, the stories reveal modes of surveillance that go beyond panopticism, such as panauralism. Moreover, the stories demonstrate how young people resist to their surveillance by re-turning the gaze to their tas, exercising the synoptic gaze. The paper concludes by considering the contributions of those stories, including the need to consider surveillance in relational terms, its multi-sensory nature, and its constitutive power.

• #15 Stories of Surveillance and Resistance: Young People with Dwarfism and Teaching Assistants in Secondary Schools in the United Kingdom in: Journal of Disability Studies in Education Volume 4 Issue 1 (2024)

  https://brill.com/view/journals/jdse/4/1/article-p1_001.xml?srsltid=AfmBOoqoEMSsrZhNUqL1jQncsK02sMfRPF2Hp5R8Iqww78Tx4s4HlaBS

  This paper takes a similar stance to explore critically how the institutional support provided by tas to disabled young people is not benevolent, but, under the guise of support, disabled students find themselves under adult surveillance, aiming at their normalisation (Foucault 1977). […] Specifically, this paper examines how the young people with dwarfism experienced the tas support as a form of surveillance, its repercussions, and how they attempted to resist to it. These stories indicate the knowledge disabled young people about the hierarchical power relations in schools, or, put differently, the biopolitics of schooling, that is, which bodies are valued and which ones are constructed as disruptive and in need of normalisation. The young peoples stories also provide nuanced understandings of surveillance and resistance, which enrich Foucaults discussion of those concepts and how these have been utilised in Critical Disability Studies (cf. Tremain 2015).

• #16 Stories of Surveillance and Resistance: Young People with Dwarfism and Teaching Assistants in Secondary Schools in the United Kingdom in: Journal of Disability Studies in Education Volume 4 Issue 1 (2024)

  https://brill.com/view/journals/jdse/4/1/article-p1_001.xml?srsltid=AfmBOoqoEMSsrZhNUqL1jQncsK02sMfRPF2Hp5R8Iqww78Tx4s4HlaBS

  The young people could not escape their tas surveillance, who did not leave them out of their sight at any moment, indicating the hierarchical nature of surveillance. […] The following stories illustrate how panauralism manifested in secondary schools. […] What all of the above stories demonstrate is that the young people are conscious of this panaural surveillance and they have to self-govern/self-censor themselves in terms of what they could share with their friends. […] The stories presented and discussed earlier have indicated how disabled young people find themselves under their tas constant surveillance, with the aim of the production of the docile, self-governed subject. Such surveillance takes place not only in the panoptic class, but extends to other spaces, such as the playground.

• #17 Achondroplasia Market Size, Trends | Forecast 2025-2035

  https://www.imarcgroup.com/achondroplasia-market

  What is the size of the achondroplasia patient pool (2019-2024) across the seven major markets? […] What would be the forecasted patient pool (2025-2035) across the seven major markets? […] What are the key factors driving the epidemiological trend of achondroplasia? […] What will be the growth rate of patients across the seven major markets?

• #18 Russell-Silver dwarfism | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/russell-silver-dwarfism-1?embed_domain=hackmd.io%2F%40yIPUAFeCSL2JsU8smR5nJQ%2Fbnjhjgjghjghjghfavicon.icoradiopaedia-icon-144.pngfavicon.icoradiopaedia-icon-144.png&lang=gb

  Russell-Silver dwarfism is a very rare syndrome representing a form of primordial dwarfism. […] Epidemiology […] Associations […] single umbilical artery […] Asymmetrical IUGR pattern.

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