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Achondroplasia

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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,

Publié dans : Santé & Médecine
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Achondroplasia

  1. 1. Achondroplasia Prof. Dr. Saad S Al Ani Prof. of Pediatrics Senior Pediatric Consultant Saad’s Kids Clinic Baghdad ,Iraq anahbaghdad@gmail.com
  2. 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 Skeletal Dysplasias: Are a heterogeneous group of disorders characterized by intrinsic abnormalities in the growth or remodelling of the cartilage and bone
  3. 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 Skeletal Dysplasias (Cont.): They affect the skull, spine ,and extremities in varying degrees They frequently cause a disproportionately short stature (dwarfism)
  4. 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 Skeletal Dysplasias (Cont.): The standing height falls below the third percentile for age Achondroplasia is the most common type of short-limb disproportionate dwarfism
  5. 5. Anatomy The bony skeleton The axial skeleton The appendicular skeleton 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 5
  6. 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. 7. Anatomy (Cont.) The axial skeleton The skull The vertebrae The ribs The sternum 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 7
  8. 8. Anatomy The appendicular skeleton The bones of the extremities 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 8
  9. 9. Pathophysiology Dwarfing Short limb types Short trunk types 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 9
  10. 10. Pathophysiology (Cont.) Short limb types Achondroplasia Hypochondroplasia Metaphyseal chondroplasia 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 10
  11. 11. Pathophysiology (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 11 In short limb types of dwarfing the sitting height is within normal range
  12. 12. Pathophysiology (Cont.) Classification of greatest segmental involvement 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 12 Segmentalinvolvement Rhizomelic (proximal) Mesomelic (middle) Acromelic (distal)
  13. 13. Pathophysiology (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 13 In achondroplasia, the extremity involvement is rhizomelic ,the arms and thighs are more severely involved than the forearms ,legs ,hands , and feet Laederich MB ,Horton WA. Achondroplasia :pathogenesis and implications for future treatment. Curr Opin Pediatr.2010 Aug.22(4):516-23
  14. 14. Pathophysiology (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 14 In achondroplasia ;the primary defect is abnormal endochondral ossification N.B. Periosteal and intramembranous ossification is normal
  15. 15. Pathophysiology (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 15 Inachondroplasia: Tubular bones are short and broad . The iliac crest apophyses are normal The growth of the triradiant cartilage is abnormal
  16. 16. Etiology 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 16 At least 80% of cases result from a random new mutation In sporadic cases . a paternal age older than 36 years is common Most parents are of average size and have NO family history of a dwarfing condition
  17. 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. A single gene mapped to the short arm of chromosome 4 (band 4p16.3) Achondroplasia is transmitted as an autosomal dominant trait
  18. 18. Etiology (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 18 MutationinFGFR3(Fibroblast growthfactorreceptor3)is responsiblefor: Achondroplasia Hypochondroplasia Thanatophoric dysplasia
  19. 19. Etiology (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 19 MutationinFGFR3: Is due to transition of guanine to adenine (G to A) at nucleotide 1138 of complimentary DNA Causes enhancement in its fuction of limiting endochondral ossification
  20. 20. Etiology (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 20 The primary function of FGFR3 is to limit osteogenesis
  21. 21. Epidemiology 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 21 Achondroplasia Worldwide is the most common skeletal dysplasia affecting 1 in every 40,000 children About 80% of all dwarfs have achondroplasia Males and females and all races have equal frequency
  22. 22. Prognosis 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 22 CausesofDeath In children < 4yr. Brainstem compression In individual aged 5-24yr. Central nervous system and Respiratory abnormalities
  23. 23. Prognosis (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 23 Morbidityassociated withachondroplasia Recurrent otitis media Neurologic complications Obstructive and restrictive respiratory complications
  24. 24. Prognosis (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 24 Morbidityassociated withachondroplasia (cont.) Hydrocephalus Spinal deformities Obesity
  25. 25. Prognosis (Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 25 Morbidityassociated withachondroplasia (Cont,) Spinal canal stenosis Genu varum Cardiovascular complications
  26. 26. 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 26 Clinical presentation History& Physicalexamination Gross motor development delay Speech and language problems Cognitive skills are preserved Intelligence level is within normal Standing height is below 3rd centile Sitting height is within normal limits
  27. 27. 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 27 Clinical presentation (Cont.) History& Physicalexamination Otitis media (about 75%) Conductive hearing loss Dental crowding &malocclusion Small chest &pectus excavatum Joint laxity Back pain ,leg pain ,paresthesias & incontinence
  28. 28. 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 28 Clinical presentation (Cont.) History& Physicalexamination Disproportionate short-limb dwarfism (at birth) Thoracolumbar kyphosis &lordosis (before walking) Trident hand Spinal deformities Spinal canal stenosis Macrocephaly
  29. 29. Differential Diagnosis 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 29 Thanatophoric dwarfism Chondroectodermal dysplasia (Ellis-van Creveld syndrome) Asphyxiated thoracic dysplasia Chondrodysplasia punctata (Conradi disease) Pseudoachondroplastic dysplasia
  30. 30. 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 30 Laboratory studies DNA testing : FGFR3 Mutation Ultrasonography: antenatally Imaging studies Somatosensory evoked potential (SSEP) Pulmonary function tests Sleep study
  31. 31. 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 31 Imaging studies ImagingStudies Radiographs of skull ,spine & extremities The characteristic features Computed tomography (CT) Foramen magnum size, Spinal canal narrowness , cross-sectional anatomy evaluation Magnetic resonance imaging (MRI) Strongly recommended in infancy Ultrasonography Late in pregnancy
  32. 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. 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. 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. 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. 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. 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. 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. 39. Treatment & Management(Cont.) 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 39 Orthopedic problems Craniocervical stenosis Thoracolumbar kyphosis Spinal stenosis Angular deformities of the lower extremities
  40. 40. Consultation 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 40 Orthodontist Speech therapist Otolaryngologist Geneticist Pulmonologist Pediatrician
  41. 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. 42. Thank you 3/27/2020 Achondroplasia Prof. Dr. Saad S Al Ani 42

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