Ann Pediatr Endocrinol Metab.  2015 Dec;20(4):187-191. 10.6065/apem.2015.20.4.187.

Guidelines for genetic skeletal dysplasias for pediatricians

Affiliations
  • 1Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. jindk@skku.edu

Abstract

Skeletal dysplasia (SD) is a kind of heterogeneous genetic disorder characterized by abnormal growth, development, differentiation, and maintenance of the bone and cartilage. The patients with SD most likely to be seen by a pediatrician or orthopedic surgeon are those who present with short stature in childhood. Because each category has so many diseases, classification is important to understand SD better. In order to diagnose a SD accurately, clinical and radiographic findings should be evaluated in detail. In addition, genetic diagnosis of SD is important because there are so various SDs with complex phenotypes. To reach an exact diagnosis of SDs, cooperative approach by a clinician, a radiologist and a geneticist is important. This review aims to provide an outline of the diagnostic approach for children with disproportional short stature.

Keyword

Short stature; Skeletal dysplasia; Exome sequencing

MeSH Terms

Cartilage
Child
Classification
Diagnosis
Humans
Orthopedics
Phenotype

Figure

  • Fig. 1 Cooperative approach by a clinician, a radiologist and a geneticist is important for diagnosis of skeletal dysplasia.


Reference

1. Orioli IM, Castilla EE, Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias. J Med Genet. 1986; 23:328–332. PMID: 3746832.
Article
2. Unger S. A genetic approach to the diagnosis of skeletal dysplasia. Clin Orthop Relat Res. 2002; 32–38. PMID: 12151880.
Article
3. International nomenclature and classification of the osteochondrodysplasias (1997). International Working Group on Constitutional Diseases of Bone. Am J Med Genet. 1998; 79:376–382. PMID: 9779805.
4. Bober MB, Taylor M, Heinle R, Mackenzie W. Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. Am J Med Genet A. 2012; 158A:2336–2341. PMID: 22888019.
Article
5. Digilio MC, Marino B, Giannotti A, Dallapiccola B. Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes. Pediatr Cardiol. 1997; 18:74–75. PMID: 8960501.
Article
6. Khan S, Hinks J, Shorto J, Schwarz MJ, Sewell WA. Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome. Clin Exp Immunol. 2008; 151:448–454. PMID: 18190602.
Article
7. Kiel EA, Frias JL, Victorica BE. Cardiovascular manifestations in the Larsen syndrome. Pediatrics. 1983; 71:942–946. PMID: 6856406.
Article
8. Makitie O, Pukkala E, Kaitila I. Increased mortality in cartilage-hair hypoplasia. Arch Dis Child. 2001; 84:65–67. PMID: 11124791.
Article
9. KL J. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia: WB Saunders;1997.
10. Krakow D, Rimoin DL. The skeletal dysplasias. Genet Med. 2010; 12:327–341. PMID: 20556869.
Article
11. Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, et al. Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet A. 2015; 9. 23. [Epub]. DOI: 10.1002/ajmg.a.37365.
Article
12. Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr. Medical complications of achondroplasia: a multicentre patient review. J Med Genet. 1998; 35:705–712. PMID: 9733026.
Article
13. McKeand J, Rotta J, Hecht JT. Natural history study of pseudoachondroplasia. Am J Med Genet. 1996; 63:406–410. PMID: 8725795.
Article
14. Garjian KV, Pretorius DH, Budorick NE, Cantrell CJ, Johnson DD, Nelson TR. Fetal skeletal dysplasia: threedimensional US: initial experience. Radiology. 2000; 214:717–723. PMID: 10715036.
Article
15. Mortier GR. The diagnosis of skeletal dysplasias: a multidisciplinary approach. Eur J Radiol. 2001; 40:161–167. PMID: 11731205.
Article
16. Kaname T, Ki CS, Niikawa N, Baillie GS, Day JP, Yamamura K, et al. Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis. Cell Signal. 2014; 26:2446–2459. PMID: 25064455.
Article
17. Unger S, Antoniazzi F, Brugnara M, Alanay Y, Caglayan A, Lachlan K, et al. Clinical and radiographic delineation of odontochondrodysplasia. Am J Med Genet A. 2008; 146A:770–778. PMID: 18241073.
Article
18. DL R, RS L. Principles and practice of medical genetics. 3 ed. New York: Churchill Livingstone;1997.
19. Sewell MD, Chahal A, Al-Hadithy N, Blunn GW, Molloy S, Hashemi-Nejad A. Genetic skeletal dysplasias: a guide to diagnosis and management. J Back Musculoskelet Rehabil. 2015; 28:575–590. PMID: 25391330.
Article
20. Ikegawa S. Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence era. J Hum Genet. 2006; 51:581–586. PMID: 16670815.
Article
21. Park JH, Kim NK, Kim AR, Rhee J, Oh SH, Koo JW, et al. Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication. Orphanet J Rare Dis. 2014; 9:167. PMID: 25373420.
Article
22. Bae JS, Kim NK, Lee C, Kim SC, Lee HR, Song HR, et al. Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing. Genet Med. 2015; 9. 24. [Epub]. DOI: 10.1038/gim.2015.129.
Article
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