Abstract
Skeletal dysplasias are quite a heterogeneous group of disorders, characterized by bone and cartilage abnormalities. Although each of them is individually rare, collectively the birth incidence is approximately 1 in 5000 live births. Due to the clinical heterogeneity, patients with skeletal dysplasias can apply to different departments with many different complaints or even lethal in the perinatal period. The establishment of a precise diagnosis provide proper clinical management of the patient, and a confirmed molecular diagnosis can prevent the recurrence of the disorder in the next generations. However, determining a spesific diagnosis is not always easy, yet a multisystemic, comprehensive, and stepwise approach to the patients with skeletal dysplasias, at least allows clinicians to classify into a specific group. In this review, general approach to patients with skeletal dysplasias, and some of the clinical and radiographic clues helpful in the diagnostic process are briefly summarized.
Ethical Statement
No need
References
- Handa A, Grigelioniene G, Nishimura G. Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis. Radiographics 2023;43:e220067.
- Glanc, Phyllis, David Chitayat, and Louise Wilkins-Haug. “Approach to prenatal diagnosis of the lethal (life-limiting) skeletal dysplasias.” (Up-to-Date), last updated Jan 03,2022
- Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, et al. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A 2023;191:1164-209.
- Sabir AH, Cole T. The evolving therapeutic landscape of genetic skeletal disorders. Orphanet J Rare Dis 2019;14:300.
- Jurcă MC, Jurcă SI, Mirodot F, Bercea B, Severin EM, Bembea M, et al. Changes in skeletal dysplasia nosology. Rom J Morphol Embryol 2021;62:689-96.
- Cho SY, Jin DK. Guidelines for genetic skeletal dysplasias for pediatricians. Ann Pediatr Endocrinol Metab 2015;20:187-91.
- Şimşek-Kiper PÖ, Alanay Y. Overall evaluation of skeletal dysplasias. Totbid dergisi 2016;15:247-78.
- Ikegawa S. Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence era. J Hum Genet 2006;51:581-6.
- Bacino Carlos A, Hahn S and TePas E. “Skeletal dysplasias: approach to evaluation.”Waltham, MA, USA: UpToDate (2020).
- Spranger JW, Brill PW, Hall C, Nishimura G, Superti-Furga A, Unger S Bone Dysplasias, An Atlas of Genetic Disorders of Skeletal Development, 4th edition, New York, 2018.
- Krakow D, Rimoin DL. The skeletal dysplasias. Genet Med 2010;12:327-41.
- Mortier GR. The diagnosis of skeletal dysplasias: a multidisciplinary approach. Eur J Radiol 2001;40:161-7.
- Irving M, Holder-Espinasse M. Three M Syndrome. 2002 Mar 25 [Updated 2019 Feb 7]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
- Briggs MD, Wright MJ, Mortier GR. Multiple Epiphyseal Dysplasia, Autosomal Dominant. 2003 Jan 8 [Updated 2019 Apr 25]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
- McCray BA, Schindler A, Hoover-Fong JE, Charlotte J Sumner. Autosomal Dominant TRPV4 Disorders. 2014 May 15 [Updated 2020 Sep 17]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK201366/
- Turan S, Bereket A, Omar A, Berber M, Ozen A, Bekiroglu N. Uper segment/lower segment ratio and armspan-height difference in healthy Turkish children. Acta Paediatr 2005;94:407-13.
- Handa A, Nishimura G, Zhan MX, Bennett DL, El-Khoury GY. A primer on skeletal dysplasias. Jpn J Radiol 2022;40:245-261.
- Ngo AV, Thapa M, Otjen J, Kamps SE. Skeletal Dysplasias: Radiologic Approach with Common and Notable Entities. Semin Musculoskelet Radiol 2018;22:66-80.
- Offiah AC, Hall CM. Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C? Pediatr Radiol 2003;33:153-61.
- Alanay Y, Lachman RS. A review of the principles of radiological assessment of skeletal dysplasias. J Clin Res Pediatr Endocrinol. 2011;3:163-78.
- Balasubramanian, Meena. “Osteogenesis imperfecta: An overview.” 2023: 1-41.
- Offiah AC, Vockley J, Munns CF, Murotsuki J. Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives. Pediatr Radiol 2019;49:3-22.
- Calder AD, Gaunt T, Hickson M, Mankad K, Wilson LC. Major skull manifestations of skeletal dysplasias - pictorial essay. Pediatr Radiol 2020;50:1658-68.
- Gregersen PA, Savarirayan R. Type II Collagen Disorders Overview. 2019 Apr 25. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
- Jain, Rupali, et al. “Chest X-Ray as the First Pointer in Various Skeletal Dysplasia and Related Disorders.” (2022).
- Gabra P, Jana M, Naranje P, Gupta N, Kabra M, Gupta AK, Yadav R. Spine radiograph in dysplasias: A pictorial essay. Indian J Radiol Imaging 2020;30:436-47.
- Jana M, Nair N, Gupta AK, Kabra M, Gupta N. Pelvic radiograph in skeletal dysplasias: An approach. Indian J Radiol Imaging 2017;27:187-99.
- Mäkitie O, Vakkilainen S. Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders. 2012 Mar 15 [Updated 2023 May 11]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
- Vanhoenacker FM, Simoni P, Bosmans F, Boutry N. Congenital and Developmental Abnormalities of the Hand and Wrist. Semin Musculoskelet Radiol 2021;25:260-71.
- Marzin P, Cormier-Daire V. New perspectives on the treatment of skeletal dysplasia. Ther Adv Endocrinol Metab 2020;11:2042018820904016.
- White KK, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, et al. Best practice guidelines for management of spinal disorders in skeletal dysplasia. Orphanet J Rare Dis 2020;15:161.
- Bulaklak K, Gersbach CA. The once and future gene therapy. Nat Commun 2020;11:5820.
Abstract
İskelet displazileri kemik ve kıkırdak anormallikleri ile karakterize oldukça heterojen bir hastalık grubudur. Tek tek ele alındığında oldukça nadir olmakla birlikte bütüncül bakıldığında sıklığı yaklaşıl olarak 5000 doğumda 1’dir. Klinik heterojeniteye bağlı olarak hastalar farklı bölümlere farklı şikayetlerle başvurabilir ya da hastalar perinatal dönemde kaybedilebilir. Doğru tanı koymak, hastanın klinik takibinin uygun yapılmasını sağlar ve doğrulanmış moleküler tanı ile hastalığın sonraki nesillerde ortaya çıkmasının önüne geçilmiş olur. Ancak spesifik bir tanı koymak her zaman kolay değildir, ama multisistemik, kapsamlı ve basamaklı bir yaklaşım en azından spesifik bir grup içinde sınıflandırmayı sağlar. Bu yazıda iskelet displazili hastalara genel bir yaklaşım ve tanısal süreçte yardımcı olabilecek klinik ve radyolojik ipuçları kısaca özetlenmiştir.
References
- Handa A, Grigelioniene G, Nishimura G. Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis. Radiographics 2023;43:e220067.
- Glanc, Phyllis, David Chitayat, and Louise Wilkins-Haug. “Approach to prenatal diagnosis of the lethal (life-limiting) skeletal dysplasias.” (Up-to-Date), last updated Jan 03,2022
- Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, et al. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A 2023;191:1164-209.
- Sabir AH, Cole T. The evolving therapeutic landscape of genetic skeletal disorders. Orphanet J Rare Dis 2019;14:300.
- Jurcă MC, Jurcă SI, Mirodot F, Bercea B, Severin EM, Bembea M, et al. Changes in skeletal dysplasia nosology. Rom J Morphol Embryol 2021;62:689-96.
- Cho SY, Jin DK. Guidelines for genetic skeletal dysplasias for pediatricians. Ann Pediatr Endocrinol Metab 2015;20:187-91.
- Şimşek-Kiper PÖ, Alanay Y. Overall evaluation of skeletal dysplasias. Totbid dergisi 2016;15:247-78.
- Ikegawa S. Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence era. J Hum Genet 2006;51:581-6.
- Bacino Carlos A, Hahn S and TePas E. “Skeletal dysplasias: approach to evaluation.”Waltham, MA, USA: UpToDate (2020).
- Spranger JW, Brill PW, Hall C, Nishimura G, Superti-Furga A, Unger S Bone Dysplasias, An Atlas of Genetic Disorders of Skeletal Development, 4th edition, New York, 2018.
- Krakow D, Rimoin DL. The skeletal dysplasias. Genet Med 2010;12:327-41.
- Mortier GR. The diagnosis of skeletal dysplasias: a multidisciplinary approach. Eur J Radiol 2001;40:161-7.
- Irving M, Holder-Espinasse M. Three M Syndrome. 2002 Mar 25 [Updated 2019 Feb 7]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
- Briggs MD, Wright MJ, Mortier GR. Multiple Epiphyseal Dysplasia, Autosomal Dominant. 2003 Jan 8 [Updated 2019 Apr 25]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
- McCray BA, Schindler A, Hoover-Fong JE, Charlotte J Sumner. Autosomal Dominant TRPV4 Disorders. 2014 May 15 [Updated 2020 Sep 17]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK201366/
- Turan S, Bereket A, Omar A, Berber M, Ozen A, Bekiroglu N. Uper segment/lower segment ratio and armspan-height difference in healthy Turkish children. Acta Paediatr 2005;94:407-13.
- Handa A, Nishimura G, Zhan MX, Bennett DL, El-Khoury GY. A primer on skeletal dysplasias. Jpn J Radiol 2022;40:245-261.
- Ngo AV, Thapa M, Otjen J, Kamps SE. Skeletal Dysplasias: Radiologic Approach with Common and Notable Entities. Semin Musculoskelet Radiol 2018;22:66-80.
- Offiah AC, Hall CM. Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C? Pediatr Radiol 2003;33:153-61.
- Alanay Y, Lachman RS. A review of the principles of radiological assessment of skeletal dysplasias. J Clin Res Pediatr Endocrinol. 2011;3:163-78.
- Balasubramanian, Meena. “Osteogenesis imperfecta: An overview.” 2023: 1-41.
- Offiah AC, Vockley J, Munns CF, Murotsuki J. Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives. Pediatr Radiol 2019;49:3-22.
- Calder AD, Gaunt T, Hickson M, Mankad K, Wilson LC. Major skull manifestations of skeletal dysplasias - pictorial essay. Pediatr Radiol 2020;50:1658-68.
- Gregersen PA, Savarirayan R. Type II Collagen Disorders Overview. 2019 Apr 25. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
- Jain, Rupali, et al. “Chest X-Ray as the First Pointer in Various Skeletal Dysplasia and Related Disorders.” (2022).
- Gabra P, Jana M, Naranje P, Gupta N, Kabra M, Gupta AK, Yadav R. Spine radiograph in dysplasias: A pictorial essay. Indian J Radiol Imaging 2020;30:436-47.
- Jana M, Nair N, Gupta AK, Kabra M, Gupta N. Pelvic radiograph in skeletal dysplasias: An approach. Indian J Radiol Imaging 2017;27:187-99.
- Mäkitie O, Vakkilainen S. Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders. 2012 Mar 15 [Updated 2023 May 11]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
- Vanhoenacker FM, Simoni P, Bosmans F, Boutry N. Congenital and Developmental Abnormalities of the Hand and Wrist. Semin Musculoskelet Radiol 2021;25:260-71.
- Marzin P, Cormier-Daire V. New perspectives on the treatment of skeletal dysplasia. Ther Adv Endocrinol Metab 2020;11:2042018820904016.
- White KK, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, et al. Best practice guidelines for management of spinal disorders in skeletal dysplasia. Orphanet J Rare Dis 2020;15:161.
- Bulaklak K, Gersbach CA. The once and future gene therapy. Nat Commun 2020;11:5820.
Details
| Primary Language | English |
|---|---|
| Subjects | Clinical Sciences (Other) |
| Journal Section | REVIEW |
| Authors | |
| Early Pub Date | January 8, 2024 |
| Publication Date | January 10, 2024 |
| Submission Date | October 24, 2023 |
| Acceptance Date | January 2, 2024 |
| Published in Issue | Year 2024 Volume: 18 Issue: 1 |
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