Achondroplasia

What is achondroplasia, definition , etiology ,types of dwarfism , genetic background,clinical presentations ,history and clinical examination , differential diagnosis ,diagnostic tests ,radiological findings ,CT scan and MRI , Medical care and role of growth hormone ,Surgical care and consultation,

1. Achondroplasia Prof. Dr. Saad S Al Ani Prof. of Pediatrics Senior Pediatric Consultant Saad’s Kids Clinic Baghdad ,Iraq [email protected]

2. Introduction Smoker WR, Khanna G. Imaging the craniocervical junction. Childs Nerv Syst. 2008 Oct.24 (10):1123-45. 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 2

3. Introduction Paul RM, Legare JM. Achondroplasia .Adam MP, Ardinger HH, Pagon RA ,et al, eds. GeneReviews [internet].Seattle : University of Washington;2018 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 3

4. Introduction Paul RM, Legare JM. Achondroplasia .Adam MP, Ardinger HH, Pagon RA ,et al, eds. GeneReviews [internet].Seattle : University of Washington;2018 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 4

5. Anatomy 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 5

6. 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 6 Typical features of person with achondroplastic dwarfism, including normal trunk with rhizomelic shortening and genu varum . https:// emedicine.medscape.com/article/1258401-clinical

7. Anatomy (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 7

8. Anatomy 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 8

9. Pathophysiology 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 9

10. Pathophysiology (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 10

11. Pathophysiology (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 11

12. Pathophysiology (Cont.) Classification of greatest segmental involvement 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 12

13. Pathophysiology (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 13 Laederich MB ,Horton WA. Achondroplasia :pathogenesis and implications for future treatment. Curr Opin Pediatr.2010 Aug.22(4):516-23

14. Pathophysiology (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 14

15. Pathophysiology (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 15

16. Etiology 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 16

17. Etiology 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 17 Baitner AC ,Maurer SG , Gruen MB , Di Cesare PE . The genetic basis of the osteochondrodysplasias. J Pediatr Orthop. 2000 Sep-Oct. 20(5):594-605.

18. Etiology (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 18

19. Etiology (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 19

20. Etiology (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 20

21. Epidemiology 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 21

22. Prognosis 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 22

23. Prognosis (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 23

24. Prognosis (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 24

25. Prognosis (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 25

26. 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 26 Clinical presentation

27. 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 27 Clinical presentation (Cont.)

28. 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 28 Clinical presentation (Cont.)

29. Differential Diagnosis 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 29

30. 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 30 Laboratory studies

31. 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 31 Imaging studies

32. 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 32 Characteristic skull seen in patients with achondroplasia, with frontal bossing, small foramen magnum, midface hypoplasia, and relative enlargement of skull as compared with face. https:// emedicine.medscape.com/article/1258401-workup#c4

33. 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 33 Progressive narrowing of coronal interpedicular distance in lumbar spine in patients with achondroplasia. Note characteristic shape of pelvis with horizontal sacral position. https:// emedicine.medscape.com/article/1258401-workup#c4

34. 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 34 Thoracolumbar kyphosis with narrow lumbar spinal canal and concave posterior bodies in 13-month-old child with achondroplasia. https:// emedicine.medscape.com/article/1258401-workup#c4

35. 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 35 Typical features of lower limbs in person with achondroplasia, including horizontal acetabular roofs, small sacrosciatic notches, genu varum and ankle varum with relative overgrowth of fibula, and inverted V-shaped distal femoral physis. https:// emedicine.medscape.com/article/1258401-workup#c4

36. 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 36 MRI showing cervicomedullary compression at foramen magnum in patient with achondroplasia. emedicine.medscape.com/article/1258401-workup#c4

37. Treatment & Management 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 37 Medical care Usage of somatotropin (recombinant human growth hormone {GH}) is recommended to be initiated at 1-6 years of age

38. Treatment & Management (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 38 Surgical care The most encountered orthopedic problems are related to the spine

39. Treatment & Management (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 39

40. Consultation 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 40

41. References 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 41 Pauli RM, Legare JM. Achondroplasia. Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet] . Seattle: University of Washington; 2018. Ireland PJ, McGill J, Zankl A, et al. Functional performance in young Australian children with achondroplasia. Dev Med Child Neurol . 2011 Oct. 53(10):944-50 . Ireland PJ, Johnson S, Donaghey S, Johnston L, Ware RS, Zankl A, et al. Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years. J Paediatr Child Health. 2012 May. 48 (5):443-9 . Zaffanello M, Lo Tartaro P, Piacentini G, Cantalupo G, Gasperi E, Antoniazzi F. Sleep disordered breathing in a cohort of children with achondroplasia: correlation between clinical and instrumental findings. Minerva Pediatr. 2017 Dec. 69 (6):481-488. Xu L, Li Y, Sheng F, Xia C, Qiu Y, Zhu Z. The Efficacy of Brace Treatment for Thoracolumbar Kyphosis in Patients with Achondroplasia. Spine (Phila Pa 1976). 2018 Feb 6 Smoker WR, Khanna G. Imaging the craniocervical junction. Childs Nerv Syst. 2008 Oct. 24(10): 1123-45 Laederich MB, Horton WA. Achondroplasia: pathogenesis and implications for future treatment. Curr Opin Pediatr. 2010 Aug. 22(4):516-23

42. Thank you 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 42