Multimedia
 | Media file 1: Genu varum. Image shows rhizomelic shortening of the bilateral femurs with metaphyseal flaring. The bones are wide because of unaffected appositional growth. |
 | Media file 2: Image shows rhizomelic shortening of the humerus with posterior bowing and an incomplete glenoid fossa. |
 | Media file 3: Image shows inverted femoral physes (inverted V configuration), which contributes to a waddling gait. |
 | Media file 4: Image shows progressive narrowing of the lumbar spinal canal, bullet-nose vertebrae, and marked lumbar lordosis. Note the shortened ribs. |
 | Media file 5: Image shows progressive reduction in vertebral interpediculate distance in the caudal direction. |
 | Media file 6: The spine is often affected in achondroplasia. Features include interpediculate narrowing and thickened pedicles. |
 | Media file 7: Anterior wedging of the vertebral bodies produces a bullet shape (not shown). Disk herniation is common. Changes in the spine can result in stenosis of the spinal canal, particularly in the lumbar region. |
 | Media file 8: Shortened ribs. |
 | Media file 9: Image shows progressive narrowing of the interpediculate distance with a champagne-glass pelvis. Note that the legs are straight in infancy. |
 | Media file 10: Image shows an enlarged calvaria with a shortened skull base and frontal bossing. Note the midface hypoplasia. |
 | Media file 11: Enlarged calvaria. Note the enlarged mandible. |
 | Media file 12: Image shows posterior bowing of the humerus, the principal cause of the loss of elbow extension. Posterior dislocation of the radial head may also contribute. |
 | Media file 13: Champagne-glass pelvis with squared iliac wings, a narrow sacroiliac notch, and a reduced acetabular angle. |
 | Media file 14: Patient with achondroplasia and pelvic changes less severe than those in the patient shown in Image 14. |
 | Media file 15: Trident hands. Image shows widely opposed fingers of equal length. |
 | Media file 16: Trident hands. |
 | Media file 17: Image shows a decreased lumbar interpedicular distance. Note the scoliosis. |
 | Media file 18: Image shows concave scalloping of the posterior surface of the vertebral bodies. |
 | Media file 19: Image shows scoliosis. |
 | Media file 20: Image shows bullet-nose hypoplastic vertebrae with a narrowed anteroposterior diameter of the spine. |
 | Media file 21: Ellis-van Creveld (EVC) syndrome is a differential diagnosis of short-limb dwarfisms. It is also known as chondroectodermal dysplasia. This autosomal recessive disease involves chromosome 4p16. The hands demonstrate polydactyly in almost all patients, whereas the feet demonstrate polydactyly in only 10%. Note the broad hands with short middle phalanges and hypoplastic distal phalanges. The carpal bones are malformed, with fusion of the capitate and hamate. Extracarpal bones might also be present. The ends of the ulna and radius are enlarged. |
 | Media file 22: Ellis-van Creveld (EVC) syndrome. (See also Image 21.) |
 | Media file 23: The knees of patients with Ellis-van Creveld (EVC) syndrome develop a genu valgus deformity, and the long bones are short. Hypoplasia of the proximal tibia is also present. (See also Images 21-22.) |
 | Media file 24: The knees of patients with Ellis-van Creveld (EVC) syndrome develop a genu valgus deformity, and the long bones are short. Hypoplasia of the proximal tibia is also present. (See also Images 21-23.) |
 | Media file 25: The thoracic cavity of this patient with Ellis-van Creveld (EVC) syndrome is small and narrow, with short ribs. About 60% of patients have cardiac anomalies, and most patients ultimately die from respiratory illness. |
 | Media file 26: In Ellis-van Creveld (EVC) syndrome, the teeth are hypoplastic, as are the nails. The teeth are small and cone shaped, with irregular spacing. Other facial anomalies include a partial harelip. |
 | Media file 27: Metaphyseal chondroplasia (Schmid type) is a differential diagnosis of achondroplasia, with metaphyseal flaring of the ulna and radius as well as bowing of the shaft. Note no hand involvement with metaphyseal chondroplasia, unlike achondroplasia. |
 | Media file 28: Metatrophic dwarfism II, or Kniest syndrome, is a differential diagnosis. Skeletal dysplasia results in short limbs and a proportionally long trunk; however, the head and face appear normal. With time, severe kyphoscoliosis produces marked shortening of the trunk, which can make body proportions deceiving. |
 | Media file 29: Achondroplasia: Sagittal section of the cervical spine T2-weighted MRI showing narrowing of the foramen magnum at C1 canal, effacement of the subarachnoid spaces at the cervicomedullary junction, abnormal intrinsic cord signal intensity in this 6-year-old patient who presented with a neurologic deficit. |
More on Achondroplasia |
| Overview: Achondroplasia |
| Imaging: Achondroplasia |
| Follow-up: Achondroplasia |
 Multimedia: Achondroplasia |
| References |
| « Previous Page |
References
Baujat G, Legeai-Mallet L, Finidori G, Cormier-Daire V, Le Merrer M. Achondroplasia. Best Pract Res Clin Rheumatol. Mar 2008;22(1):3-18. [Medline].
Richette P, Bardin T, Stheneur C. Achondroplasia: from genotype to phenotype. Joint Bone Spine. Mar 2008;75(2):125-30. [Medline].
Hamamci N, Hawran S, Biering-Sorensen F. Achondroplasia and spinal cord lesion. Three case reports. Paraplegia. Jun 1993;31(6):375-9. [Medline].
DiMario FJ, Ramsby GR, Burleson JA, Greensheilds IR. Brain morphometric analysis in achondroplasia. Neurology. Mar 1995;45(3 Pt 1):519-24. [Medline].
Horton WA, Rotter JI, Rimoin DL, et al. Standard growth curves for achondroplasia. J Pediatr. Sep 1978;93(3):435-8. [Medline].
Hecht JT, Francomano CA, Horton WA, Annegers JF. Mortality in achondroplasia. Am J Hum Genet. Sep 1987;41(3):454-64. [Medline].
Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT. Mortality in achondroplasia study: a 42-year follow-up. Am J Med Genet A. Nov 1 2007;143(21):2502-11. [Medline].
Thomeer RT, van Dijk JM. Surgical treatment of lumbar stenosis in achondroplasia. J Neurosurg. Apr 2002;96(3 Suppl):292-7. [Medline].
Fowler GW, Sukoff M, Hamilton A, Williams JP. Communicating hydrocephalus in children with genetic inborn errors of metabolism. Childs Brain. 1975;1(4):251-4. [Medline].
Mantle M, Kingsnorth AN. An unusual cause of back pain in an achondroplastic man. Hernia. Jun 2003;7(2):95-6. [Medline].
Pauli RM. Surgical intervention in achondroplasia. Am J Hum Genet. Jun 1995;56(6):1501-2. [Medline].
Hunter AG, Hecht JT, Scott CI. Standard weight for height curves in achondroplasia. Am J Med Genet. Mar 29 1996;62(3):255-61. [Medline].
Kitoh H, Kitakoji T, Kurita K, et al. Deformities of the elbow in achondroplasia. J Bone Joint Surg Br. Jul 2002;84(5):680-3. [Medline].
Ruiz-Garcia M, Tovar-Baudin A, Del Castillo-Ruiz V, et al. Early detection of neurological manifestations in achondroplasia. Childs Nerv Syst. Apr 1997;13(4):208-13. [Medline].
Prinster C, Carrera P, Del Maschio M, et al. Comparison of clinical-radiological and molecular findings in hypochondroplasia. Am J Med Genet. Jan 6 1998;75(1):109-12. [Medline].
Stoll C. Pseudoachondroplasia with cerebral and renal cysts. Genet Couns. 2002;13(2):139-46. [Medline].
Flynn MA, Pauli RM. Double heterozygosity in bone growth disorders: four new observations and review. Am J Med Genet A. Sep 1 2003;121(3):193-208. [Medline].
Bellus GA, Escallon CS, Ortiz de Luna R, et al. First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia. Lancet. Nov 26 1994;344(8935):1511-2. [Medline].
Shiang R, Thompson LM, Zhu YZ, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. Jul 29 1994;78(2):335-42. [Medline].
Smoker WR, Khanna G. Imaging the craniocervical junction. Childs Nerv Syst. May 7 2008;[Medline].
Cobb SR, Shohat M, Mehringer CM, Lachman R. CT of the temporal bone in achondroplasia. AJNR Am J Neuroradiol. Nov-Dec 1988;9(6):1195-9. [Medline].
Brühl K, Stoeter P, Wietek B, et al. Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children: impact of magnetic resonance findings for decompressive surgery at the cranio-cervical junction. Eur J Pediatr. Jan 2001;160(1):10-20.
Kao SC, Waziri MH, Smith WL, et al. MR imaging of the craniovertebral junction, cranium, and brain in children with achondroplasia. AJR Am J Roentgenol. Sep 1989;153(3):565-9. [Medline].
Krakow D, Williams J, Poehl M, et al. Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias. Ultrasound Obstet Gynecol. May 2003;21(5):467-72. [Medline].
De Pellegrin M, Moharamzadeh D. Ultrasound Hip Evaluation in Achondroplasia. J Pediatr Orthop. Jun 2008;28(4):427-431. [Medline].
Patel MD, Filly RA. Homozygous achondroplasia: US distinction between homozygous, heterozygous, and unaffected fetuses in the second trimester. Radiology. Aug 1995;196(2):541-5. [Medline].
Parilla BV, Leeth EA, Kambich MP, et al. Antenatal detection of skeletal dysplasias. J Ultrasound Med. Mar 2003;22(3):255-8; quiz 259-61. [Medline].
Waters KA, Everett F, Sillence DO, et al. Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials. Am J Med Genet. Dec 4 1995;59(4):460-6.
Key LL, Gross AJ. Response to growth hormone in children with chondrodysplasia. J Pediatr. May 1996;128(5 Pt 2):S14-7. [Medline].
Shohat M, Tick D, Barakat S, et al. Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia. J Clin Endocrinol Metab. Nov 1996;81(11):4033-7. [Medline].
Weber G, Prinster C, Meneghel M, et al. Human growth hormone treatment in prepubertal children with achondroplasia. Am J Med Genet. Feb 2 1996;61(4):396-400. [Medline].
Stamoyannou L, Karachaliou F, Neou P, et al. Growth and growth hormone therapy in children with achondroplasia: a two-year experience. Am J Med Genet. Oct 3 1997;72(1):71-6. [Medline].
Tanaka K, Nakamura K, Matsushita T, et al. Callus formation in the humerus compared with the femur and tibia during limb lengthening. Arch Orthop Trauma Surg. 1998;117(4-5):262-4. [Medline].
Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. Feb 2000;21(1):23-39.
Zankl A, Elakis G, Susman RD, Inglis G, Gardener G, Buckley MF, et al. Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. Am J Med Genet A. Jan 15 2008;146A(2):212-8. [Medline].
Francomano CA. The genetic basis of dwarfism. N Engl J Med. Jan 5 1995;332(1):58-9. [Medline].
Ain MC, Chang TL, Schkrohowsky JG, Carlisle ES, Hodor M, Rigamonti D. Rates of perioperative complications associated with laminectomies in patients with achondroplasia. J Bone Joint Surg Am. Feb 2008;90(2):295-8. [Medline].
Ain MC, Elmaci I, Hurko O, et al. Reoperation for spinal restenosis in achondroplasia. J Spinal Disord. Apr 2000;13(2):168-73. [Medline].
Azouz EM, Teebi AS, Eydoux P, et al. Bone dysplasias: an introduction. Can Assoc Radiol J. Apr 1998;49(2):105-9. [Medline].
Bellus GA, Bamshad MJ, Przylepa KA, et al. Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. Am J Med Genet. Jul 2 1999;85(1):53-65. [Medline].
Benacerraf BR. Prenatal sonographic diagnosis of short rib-polydactyly syndrome type II, Majewski type. J Ultrasound Med. Sep 1993;12(9):552-5. [Medline].
Boor R, Fricke G, Bruhl K, Spranger J. Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia. Eur J Pediatr. Aug 1999;158(8):662-7. [Medline].
Bulas DI, Stern HJ, Rosenbaum KN, et al. Variable prenatal appearance of osteogenesis imperfecta. J Ultrasound Med. Jun 1994;13(6):419-27. [Medline].
Colamaria V, Mazza C, Beltramello A, et al. Irreversible respiratory failure in an achondroplastic child: the importance of an early cervicomedullary decompression, and a review of the literature. Brain Dev. Jul 1991;13(4):270-9. [Medline].
Danielpour M, Wilcox WR, Alanay Y, Pressman BD, Rimoin DL. Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases. J Neurosurg. Dec 2007;107(6 Suppl):504-7. [Medline].
DeLange M, Rouse GA. Prenatal diagnosis of hypophosphatasia. J Ultrasound Med. Feb 1990;9(2):115-7. [Medline].
Dominguez R, Talmachoff P. Diagnostic imaging update in skeletal dysplasias. Clin Imaging. Jul-Sep 1993;17(3):222-34. [Medline].
Ferrante L, Acqui M, Celli P, et al. Achondroplasia: unusual bone abnormalities of the cervical spine. Neurosurg Rev. 1992;15(2):143-5. [Medline].
Goncalves L, Jeanty P. Fetal biometry of skeletal dysplasias: a multicentric study. J Ultrasound Med. Dec 1994;13(12):977-85. [Medline].
Haga N. Management of disabilities associated with achondroplasia. J Orthop Sci. 2004;9(1):103-7.
Herman TE, Siegel MJ, McAlister WH. Chest wall deformity and respiratory distress in a 17-year-old patient with achondroplasia: CT and MRI evaluation. Pediatr Radiol. 1992;22(3):233-4. [Medline].
Hertzberg BS, Kliewer MA, Decker M, et al. Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. J Ultrasound Med. Oct 1999;18(10):715-8. [Medline].
Hirabuki N, Watanabe Y, Mano T, et al. Quantitation of flow in the superior sagittal sinus performed with cine phase-contrast MR imaging of healthy and achondroplastic children. AJNR Am J Neuroradiol. Sep 2000;21(8):1497-501. [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].
Hunter AG, Reid CS, Pauli RM, Scott CI Jr. Standard curves of chest circumference in achondroplasia and the relationship of chest circumference to respiratory problems. Am J Med Genet. Mar 1 1996;62(1):91-7. [Medline].
Keiper GL, Koch B, Crone KR. Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. Pediatr Neurosurg. Aug 1999;31(2):78-83. [Medline].
Kiesler J, Ricer R. The abnormal fontanel. Am Fam Physician. Jun 15 2003;67(12):2547-52. [Medline].
Klimo P Jr, Rao G, Brockmeyer D. Congenital anomalies of the cervical spine. Neurosurg Clin N Am. Jul 2007;18(3):463-78. [Medline].
Lemyre E, Azouz EM, Teebi AS, et al. Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. Can Assoc Radiol J. Jun 1999;50(3):185-97. [Medline].
Levin TL, Berdon WE, Lachman RS, et al. Lumbar gibbus in storage diseases and bone dysplasias. Pediatr Radiol. Apr 1997;27(4):289-94. [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].
Martinez-Perez D, Vander Woude DL, Barnes PD, et al. Jugular foraminal stenosis in Crouzon syndrome. Pediatr Neurosurg. Nov 1996;25(5):252-5. [Medline].
Moeglin D, Benoit B. Three-dimensional sonographic aspects in the antenatal diagnosis of achondroplasia. Ultrasound Obstet Gynecol. Jul 2001;18(1):81-3. [Medline].
Murakami S, Balmes G, McKinney S, et al. Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype. Genes Dev. Feb 1 2004;18(3):290-305.
Najjar JA, Peitersen SE, Carter LP. Craniocervical stenosis and apnea spells in a 2-month-old baby with achondroplasia. J Child Neurol. Nov 1995;10(6):484-6. [Medline].
Nakai T, Asato R, Miki Y, et al. A case of achondroplasia with downward displacement of the brain stem. Neuroradiology. May 1995;37(4):293-4. [Medline].
Oestreich AE. The acrophysis: a unifying concept for understanding enchondral bone growth and its disorders. II. Abnormal growth. Skeletal Radiol. Mar 2004;33(3):119-28.
Pourfarzam M, Morris A, Appleton M, et al. Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency. Lancet. Sep 29 2001;358(9287):1063-4. [Medline].
Rollins N, Booth T, Shapiro K. The use of gated cine phase contrast and MR venography in achondroplasia. Childs Nerv Syst. Sep 2000;16(9):569-75; discussion 575-7. [Medline].
Ryken TC, Menezes AH. Cervicomedullary compression in achondroplasia. J Neurosurg. Jul 1994;81(1):43-8. [Medline].
Sanders RC, Greyson-Fleg RT, Hogge WA, et al. Osteogenesis imperfecta and campomelic dysplasia: difficulties in prenatal diagnosis. J Ultrasound Med. Sep 1994;13(9):691-700. [Medline].
Takada Y, Morimoto T, Sugawara T, Ohno K. Trigeminal neuralgia associated with achondroplasia. Case report with literature review. Acta Neurochir (Wien). Nov 2001;143(11):1173-6. [Medline].
Takamine Y, Kitoh H, Ito H, Yazaki S, Oki T. Patellar dislocation in achondroplasia. J Pediatr Orthop B. Jan 2008;17(1):47-9. [Medline].
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].
Tongsong T, Chanprapaph P. Prenatal sonographic diagnosis of ellis-van creveld syndrome. J Clin Ultrasound. Jan 2000;28(1):38-41. [Medline].
Tongsong T, Chanprapaph P, Thongpadungroj T. Prenatal sonographic findings associated with asphyxiating thoracic dystrophy (Jeune syndrome). J Ultrasound Med. Aug 1999;18(8):573-6. [Medline].
Tongsong T, Sirichotiyakul S, Siriangkul S. Prenatal diagnosis of congenital hypophosphatasia. J Clin Ultrasound. Jan 1995;23(1):52-5. [Medline].
Tongsong T, Srisomboon J, Sudasna J. Prenatal diagnosis of Langer-Saldino achondrogenesis. J Clin Ultrasound. Jan 1995;23(1):56-8. [Medline].
Uematsu S, Wang H, Kopits SE, Hurko O. Total craniospinal decompression in achondroplastic stenosis. Neurosurgery. Aug 1994;35(2):250-7; discussion 257-8.
Waters KA, Kirjavainen T, Jimenez M, et al. Overnight growth hormone secretion in achondroplasia: deconvolution analysis, correlation with sleep state, and changes after treatment of obstructive sleep apnea. Pediatr Res. Mar 1996;39(3):547-53.
Wong VC, Fung CF. Basilar impression in a child with hypochondroplasia. Pediatr Neurol. Jan-Feb 1991;7(1):62-4.
Yamada Y, Ito H, Otsubo Y, Sekido K. Surgical management of cervicomedullary compression in achondroplasia. Childs Nerv Syst. Dec 1996;12(12):737-41.
Yamanaka Y, Ueda K, Seino Y, Tanaka H. Molecular basis for the treatment of achondroplasia. Horm Res. 2003;60 Suppl 3:60-4.
Yundt KD, Park TS, Tantuwaya VS, Kaufman BA. Posterior fossa decompression without duraplasty in infants and young children for treatment of Chiari malformation and achondroplasia. Pediatr Neurosurg. Nov 1996;25(5):221-6.
Further Reading
Keywords
achondroplasia, osteochondrodysplasia, short-limb dwarfism, dwarfism, inborn genetic disease, bone growth disorder, bone disease, developmental bone disease, chondrodystrophia fetalis, hypoplastic chondrodystrophy, chondrodystrophies, achondroplastic dwarfism, Parrot's disease, rickets fetal, ACH, metatrophic dwarfism II, Kniest syndrome, Kniest's syndrome, pseudoachondroplasia, PSACH, FGFR3 gene
