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Achondroplasia: Multimedia
Updated: Jan 26, 2009
Multimedia
![]() | Media file 1: Typical features of a person with achondroplastic dwarfism, including normal trunk with rhizomelic shortening and genu varum. |
![]() | Media file 4: Thoracolumbar kyphosis with narrow lumbar spinal canal and concave posterior bodies in a 13-month-old child with achondroplasia. |
![]() | Media file 6: MRI showing cervicomedullary compression at foramen magnum in a patient with achondroplasia. |
More on Achondroplasia |
| Overview: Achondroplasia |
| Differential Diagnoses & Workup: Achondroplasia |
| Treatment & Medication: Achondroplasia |
| Follow-up: Achondroplasia |
Multimedia: Achondroplasia |
| References |
| Further Reading |
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References
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Erdincler P, Dashti R, Kaynar MY, et al. Hydrocephalus and chronically increased intracranial pressure in achondroplasia. Childs Nerv Syst. Jun 1997;13(6):345-8. [Medline].
Baitner AC, Maurer SG, Gruen MB, Di Cesare PE. The genetic basis of the osteochondrodysplasias. J Pediatr Orthop. Sep-Oct 2000;20(5):594-605. [Medline].
Wang Q, Green RP, Zhao G, Ornitz DM. Differential regulation of endochondral bone growth and joint development by FGFR1 and FGFR3 tyrosine kinase domains. Development. Oct 2001;128(19):3867-76. [Medline].
Carakushansky G, Rosembaum S, Ribeiro MG, et al. Achondroplasia associated with Down syndrome. Am J Med Genet. May 1 1998;77(2):168-9. [Medline].
Lugo N, Becker J, Van Bosse H, et al. Lung volume histograms after computed tomography of the chest with three-dimensional imaging as a method to substantiate successful surgical expansion of the rib cage in achondroplasia. J Pediatr Surg. May 1998;33(5):733-6. [Medline].
Song HR, Choonia AT, Hong SJ, Lee SH, Suh SW, Cha IH. Rotational profile of the lower extremity in achondroplasia: computed tomographic examination of 25 patients. Skeletal Radiol. Dec 2006;35(12):929-34. [Medline].
Jeong ST, Song HR, Keny SM, Telang SS, Suh SW, Hong SJ. MRI study of the lumbar spine in achondroplasia. A morphometric analysis for the evaluation of stenosis of the canal. J Bone Joint Surg Br. Sep 2006;88(9):1192-6. [Medline].
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Mamada K, Nakamura K, Matsushita T, et al. The diameter of callus in leg lengthening: 28 tibial lengthenings in 14 patients with achondroplasia. Acta Orthop Scand. Jun 1998;69(3):306-10. [Medline].
Paley D. Current techniques of limb lengthening. J Pediatr Orthop. Jan-Feb 1988;8(1):73-92. [Medline].
Peretti G, Memeo A, Paronzini A, Marzorati S. Staged lengthening in the prevention of dwarfism in achondroplastic children: a preliminary report. J Pediatr Orthop B. 1995;4(1):58-64. [Medline].
Pyeritz RE, Sack GH Jr, Udvarhelyi GB. Thoracolumbosacral laminectomy in achondroplasia: long-term results in 22 patients. Am J Med Genet. Oct 1987;28(2):433-44. [Medline].
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Lee SH, Modi HN, Song HR, Hazra S, Suh SW, Modi C. Deceleration in maturation of bone during adolescent age in achondroplasia-a retrospective study using RUS scoring system. Skeletal Radiol. Jul 16 2008;[Medline].
Lee ST, Song HR, Mahajan R, Makwana V, Suh SW, Lee SH. Development of genu varum in achondroplasia: relation to fibular overgrowth. J Bone Joint Surg Br. Jan 2007;89(1):57-61. [Medline].
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American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics. Mar 1995;95(3):443-51. [Medline].
Frigon VA, Castro FP, Whitecloud TS, Roesch W. Isolated subaxial cervical spine stenosis in achondroplasia. Curr Surg. Jul 1 2000;57(4):354-356. [Medline].
Hunter AG, Bankier A, Rogers JG, et al. Medical complications of achondroplasia: a multicentre patient review. J Med Genet. Sep 1998;35(9):705-12. [Medline].
Mahomed NN, Spellmann M, Goldberg MJ. Functional health status of adults with achondroplasia. Am J Med Genet. Jun 16 1998;78(1):30-5. [Medline].
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Thompson NM, Hecht JT, Bohan TP, et al. Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia. Am J Med Genet. Apr 16 1999;88(2):145-53. [Medline].
Further Reading
Guidelines:
Health supervision for children with achondroplasia. American Academy of Pediatrics - Medical Specialty Society. 2005 Sep. 13 pages. NGC:004494
Clinical trials:
Issues Surrounding Prenatal Genetic Testing for Achondroplasia
Study of Skeletal Disorders and Short Stature
Keywords
achondroplasia, rhizomelic dwarfism, short-limb dwarfism, short-trunk dwarfism, chondrodystrophia fetalis, classic chondrodystrophy, dyschondroplasia fetalis, chondrodysplasia, micromelia, skeletal dysplasia, little people, achondroplastic, skeletal dysplasia












Multimedia: Achondroplasia