Journal of Child

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DOI :10.5222/j.child.2014.001   IUP :10.5222/j.child.2014.001    Full Text (PDF)

Skeletal Dysplasias from an Endocrine Point of View

Korcan Demir, Ece Böber

Skeletal dysplasias are complex group of diseases with different clinical and radiologic findings involving bone, and/or cartilage. Although skeletal dysplasias are rarely seen when considered individually, general incidence in the population is 1/3000-5000. Skeletal dysplasias are classified in 40 main groups on the basis of clinical, laboratory, radiological and molecular evaluations, and congenital malformations, spinal abnormalities, short extremities, and disproportionate short stature are seen in sekondereletal dysplasias. In addition to bone abnormalities, endocrine problems including hyperglycemia, hypo/hypercalcemia, adrenal failure, pubertal alterations, and disorders of sexual development which are mostly due to genetic disorders may accompany skeletal dysplasias. Differential diagnosis of skeletal dysplasias requires detailed history and physical examination, skeletal X-rays, genetic analysis, some advanced laboratory methods, and multidisciplinary aproach. In this review, it is aimed to present a general approach to skeletal dysplasias, endocrine abnormalities that may accompany, and the most recent classification published in 2010.

Keywords: Skeletal dysplasia, short stature, hyperglycemia, calcium, endocrine, adrenal failure, puberty, disorders of sexual development
DOI :10.5222/j.child.2014.001   IUP :10.5222/j.child.2014.001    Full Text (PDF)

Endokrin Açıdan İskelet Displazileri

Korcan Demir, Ece Böber

İskelet displazileri kemik, kıkırdak veya her iki dokunun birden etkilendiği, farklı klinik ve radyolojik bulgular ile ortaya çıkabilen karmaşık bir hastalık grubudur. Ayrı ayrı hastalıklar olarak incelendiğinde ender olmakla birlikte, iskelet displazileri toplumda 1/3000-5000 sıklığında görülür. Klinik, laboratuvar, radyolojik ve moleküler değerlendirmelere göre 40 ana gruba ayrılabilen iskelet displazilerinde çeşitli konjenital malformasyonlar, spinal anomaliler, ekstremite kısalıkları ve orantısız boy kısalıkları görülür. Çoğu genetik nedenli olan bu hastalıklarda kemik anomalileri yanında hipoglisemi, hipo/hiperkalsemi, adrenal yetmezlik, pubertal gelişim sorunları ve cinsiyet farklılaşma bozuklukları gibi endokrinolojik sorunlar da ortaya çıkabilmektedir. İskelet displazilerin ayırıcı tanısı için detaylı öykü ve muayene, iskelet grafileri, genetik inceleme, bazı ileri laboratuvar incelemeleri ve multidisipliner yaklaşım gerekir. Bu derlemede iskelet displazilerine genel yaklaşım, eşlik edebilecek endokrinolojik anormallikler ve 2010 yılında yayınlanmış en güncel sınıflamanın sunulması amaçlanmıştır.

Keywords: İskelet displazisi, boy kısalığı, hiperglisemi, kalsiyum, endokrin, adrenal yetmezlik, puberte, cinsel gelişim bozukluğu

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APA

Demir, K., & Böber, E. (2014). Skeletal Dysplasias from an Endocrine Point of View. Journal of Child, 14(1), 1-15. https://doi.org/10.5222/j.child.2014.001


AMA

Demir K, Böber E. Skeletal Dysplasias from an Endocrine Point of View. Journal of Child. 2014;14(1):1-15. https://doi.org/10.5222/j.child.2014.001


ABNT

Demir, K.; Böber, E. Skeletal Dysplasias from an Endocrine Point of View. Journal of Child, [Publisher Location], v. 14, n. 1, p. 1-15, 2014.


Chicago: Author-Date Style

Demir, Korcan, and Ece Böber. 2014. “Skeletal Dysplasias from an Endocrine Point of View.” Journal of Child 14, no. 1: 1-15. https://doi.org/10.5222/j.child.2014.001


Chicago: Humanities Style

Demir, Korcan, and Ece Böber. “Skeletal Dysplasias from an Endocrine Point of View.” Journal of Child 14, no. 1 (May. 2024): 1-15. https://doi.org/10.5222/j.child.2014.001


Harvard: Australian Style

Demir, K & Böber, E 2014, 'Skeletal Dysplasias from an Endocrine Point of View', Journal of Child, vol. 14, no. 1, pp. 1-15, viewed 4 May. 2024, https://doi.org/10.5222/j.child.2014.001


Harvard: Author-Date Style

Demir, K. and Böber, E. (2014) ‘Skeletal Dysplasias from an Endocrine Point of View’, Journal of Child, 14(1), pp. 1-15. https://doi.org/10.5222/j.child.2014.001 (4 May. 2024).


MLA

Demir, Korcan, and Ece Böber. “Skeletal Dysplasias from an Endocrine Point of View.” Journal of Child, vol. 14, no. 1, 2014, pp. 1-15. [Database Container], https://doi.org/10.5222/j.child.2014.001


Vancouver

Demir K, Böber E. Skeletal Dysplasias from an Endocrine Point of View. Journal of Child [Internet]. 4 May. 2024 [cited 4 May. 2024];14(1):1-15. Available from: https://doi.org/10.5222/j.child.2014.001 doi: 10.5222/j.child.2014.001


ISNAD

Demir, Korcan - Böber, Ece. “Skeletal Dysplasias from an Endocrine Point of View”. Journal of Child 14/1 (May. 2024): 1-15. https://doi.org/10.5222/j.child.2014.001



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