eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics
Skeletal Dysplasia: Multimedia
Updated: Sep 14, 2009
Multimedia
 | Media file 1: Infant with rhizomelic form of chondrodysplasia punctata (left). Note rhizomelic shortening of limbs, disproportionately short stature, enlarged joints, and contractures. Radiographs depict epiphyseal stipplings on the proximal humerus, both ends of the femora, and lower spine. |
 | Media file 2: Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene) and a woman with Leri-Weill syndrome. Note disproportionately short stature with mesomelic shortening and deformities of forearms and legs (in mesomelic dysplasia) and short forearms with Madelung-type deformity (in Leri-Weill syndrome). |
 | Media file 3: Infant with Beemer-type (left) and an infant with Majewski-type (right) short-rib syndrome (SRS). Note severe micrognathia/retrognathia with cleft palate, apparently low-set and malformed ears, small and narrow chest, protuberant abdomen with omphalocele, and short and slightly curved limbs with bilateral postaxial polydactyly (Beemer-type SRS), a large head, short nose, flat nasal bridge, central cleft of upper and lower lips, short neck, short chest, protuberant abdomen, abdomen, ambiguous genitalia, short limbs, and preaxial and postaxial polydactyly (Majewski-type SRS). |
 | Media file 4: Infant and 2 children with achondroplasia. Note relatively normal-sized trunk, a large head, rhizomelic shortening of the limbs, lumbar lordosis, and trident hands. Radiographs demonstrate abnormal pelvis with small square iliac wings, horizontal acetabular roofs, and narrowing of the greater sciatic notch, an oval translucent area at the proximal ends of the femora, caudal narrowing of the interpedicular distances in the lumbar region, short pedicles, and lumbar lordosis. |
 | Media file 5: Infant with thanatophoric dysplasia. Note short-limbed dysplasia, large head, short neck, narrow thorax, short and small fingers, and bowed extremities. Radiographs demonstrate thin flattened vertebrae, short ribs, small sacrosciatic notch, extremely short long tubular bones, and markedly short and curved femora (telephone receiver–like appearance). |
 | Media file 6: Infant with atelosteogenesis. Note short-limbed dysplasia, relative macrocephaly, and short neck. Radiographs demonstrate boomeranglike triangular or oval form of the long bones (humeri), absent radii, markedly delayed ossification of phalanges, short femora, and absent fibulae. |
 | Media file 7: Child with Hurler syndrome (mucopolysaccharidosis type IH). Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia, joint contractures, and claw hands. Radiographs demonstrate hook-shaped deformity (anterior wedging) of the L1 and L2 vertebrae; abnormally short, wide, and deformed tubular bones (bullet-shaped) of the hands; and narrow base of the second-to-fifth metacarpals. The distal articular surfaces of the ulna and radius are slanted toward each other. |
 | Media file 8: Two infants with perinatal lethal form of osteogenesis imperfecta. Note short-limbed skeletal dysplasia, deformed extremities, and relatively large head. Radiographs show short, thick, ribbonlike long bones with multiple fractures and callus formation at all sites (ribs, long bones). |
 | Media file 9: Infant with Larsen syndrome. Note the flat face with depressed nasal bridge, prominent forehead, hypertelorism, cleft palate, talipes equinovarus, and dislocations of elbows, hips, and knees. Radiograph demonstrates dislocation at the knee. |
 | Media file 10: Child with Robinow syndrome. Note moderate short stature, flat facial profile (fetal face–like appearance), short forearms, and small hands. |
More on Skeletal Dysplasia |
| Overview: Skeletal Dysplasia |
| Differential Diagnoses & Workup: Skeletal Dysplasia |
| Treatment & Medication: Skeletal Dysplasia |
| Follow-up: Skeletal Dysplasia |
 Multimedia: Skeletal Dysplasia |
| References |
| « Previous Page |
References
International Working Group on Constitutional Diseases of Bone. International nomenclature and classification of the osteochondrodysplasias (1997). Am J Med Genet. Oct 12 1998;79(5):376-82. [Medline].
Ikegawa S. Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence era. J Hum Genet. 2006;51(7):581-6. [Medline].
Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG. A mutant PTH/PTHrP type I receptor in enchondromatosis. Nat Genet. Mar 2002;30(3):306-10. [Medline].
Alman BA. Skeletal dysplasias and the growth plate. Clin Genet. Jan 2008;73(1):24-30. [Medline].
Kronenberg HM. Developmental regulation of the growth plate. Nature. May 15 2003;423(6937):332-6. [Medline].
Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M. 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].
Blomstrand S, Claesson I, Save-Soderbergh J. A case of lethal congenital dwarfism with accelerated skeletal maturation. Pediatr Radiol. 1985;15(2):141-3. [Medline].
Gordon SL, Varano LA, Alandete A, Maisels MJ. Jansen's metaphyseal dysostosis. Pediatrics. Oct 1976;58(4):556-60. [Medline].
Jobert AS, Zhang P, Couvineau A, Bonaventure J, Roume J, Le Merrer M. Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J Clin Invest. Jul 1 1998;102(1):34-40. [Medline].
Schipani E, Kruse K, Jüppner H. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science. Apr 7 1995;268(5207):98-100. [Medline].
Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell. May 30 1997;89(5):773-9. [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].
Superti-Furga A, Bonafe L, Rimoin DL. Molecular-pathogenetic classification of genetic disorders of the skeleton. Am J Med Genet. Winter 2001;106(4):282-93. [Medline].
Rimoin DL, Cohn D, Krakow D, Wilcox W, Lachman RS, Alanay Y. The skeletal dysplasias: clinical-molecular correlations. Ann N Y Acad Sci. Nov 2007;1117:302-9. [Medline].
Superti-Furga A, Unger S, and the Nosology Group of theInternational Skeletal Dysplasia Society. Nosology and classification of geneticskeletal disorders: 2006 revision. Am J Med Genet Part A. 2007;143A:1-18.
Doray B, Favre R, Viville B, Langer B, Dreyfus M, Stoll C. Prenatal sonographic diagnosis of skeletal dysplasias. A report of 47 cases. Ann Genet. Jul-Dec 2000;43(3-4):163-9. [Medline].
Parilla BV, Leeth EA, Kambich MP, Chilis P, MacGregor SN. Antenatal detection of skeletal dysplasias. J Ultrasound Med. Mar 2003;22(3):255-8; quiz 259-61. [Medline].
Krakow D, Williams J 3rd, Poehl M, Rimoin DL, Platt LD. Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias. Ultrasound Obstet Gynecol. May 2003;21(5):467-72. [Medline].
Cassart M, Massez A, Cos T, et al. Contribution of three-dimensional computed tomography in the assessment of fetal skeletal dysplasia. Ultrasound Obstet Gynecol. May 2007;29(5):537-43. [Medline].
Teele RL. A guide to the recognition of skeletal disorders in the fetus. Pediatr Radiol. Jun 2006;36(6):473-84. [Medline].
[Guideline] Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. Feb 2009;11(2):127-33. [Medline].
Thompson S, Shakespeare T, Wright MJ. Medical and social aspects of the life course for adults with a skeletaldysplasia: A review of current knowledge. Disabil Rehab. 2008;30:1-12.
Bethem D, Winter RB, Lutter L, et al. Spinal disorders of dwarfism. Review of the literature and report of eighty cases. J Bone Joint Surg Am. Dec 1981;63(9):1412-25. [Medline].
Bonnefoy O, Delbosc JM, Maugey-Laulom B, Lacombe D, Gaye D, Diard F. Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis. Fetal Diagn Ther. 2006;21(1):18-21. [Medline].
Bridges NA, Brook CG. Progress report: growth hormone in skeletal dysplasia. Horm Res. 1994;42(4-5):231-4. [Medline].
Chen H. Atlas of Genetic Diagnosis and Counseling. Totowa, New Jersey: Humana Press; 2006:1-1076.
Chen H. Genetic disorders. In: Liu PI, ed. Blue Book of Diagnostic Tests. Philadelphia, PA: WB Saunders Co; 1986:421-62.
Chen H. Skeletal dysplasias and mental retardation. In: Papadatos CJ, Bartsocas CS, eds. Skeletal Dysplasias. 1982. New York, NY: Alan R Liss Inc; 451-85.
Clark RN. Congenital dysplasias and dwarfism. Pediatr Rev. Nov 1990;12(5):149-59. [Medline].
Cohen MM Jr. The new bone biology: pathologic, molecular, and clinical correlates. Am J Med Genet A. Dec 1 2006;140(23):2646-706. [Medline].
Cormier-Daire V, Huber C, Munnich A. Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome). Am J Med Genet. Winter 2001;106(4):272-4. [Medline].
Dominguez R, Talmachoff P. Diagnostic imaging update in skeletal dysplasias. Clin Imaging. Jul-Sep 1993;17(3):222-34. [Medline].
Dorst JP, Scott CI Jr, Hall JG. The radiologic assessment of short stature--dwarfism. Radiol Clin North Am. Aug 1972;10(2):393-414. [Medline].
Folstein SE, Weiss JO, Mittelman F, Ross DJ. Impairment, psychiatric symptoms, and handicap in dwarfs. Johns Hopkins Med J. Jun 1981;148(6):273-7. [Medline].
Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T. Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer. Am J Med Genet A. Aug 15 2005;137(1):72-6. [Medline].
Garjian KV, Pretorius DH, Budorick NE, Cantrell CJ, Johnson DD, Nelson TR. Fetal skeletal dysplasia: three-dimensional US--initial experience. Radiology. Mar 2000;214(3):717-23. [Medline].
Hall JG, Rimoin DL. Medical complications of dwarfing syndromes. In: Growth, Genetics and Hormones. Vol 4. 1988:6-9.
Hunter AG. Some psychosocial aspects of nonlethal chondrodysplasias: I. Assessment using a Life-Styles Questionnaire. Am J Med Genet. Jun 16 1998;78(1):1-8. [Medline].
Hurst JA, Firth HV, Smithson S. Skeletal dysplasias. Semin Fetal Neonatal Med. Jun 2005;10(3):233-41. [Medline].
Ilizarov GA. Clinical application of the tension-stress effect for limb lengthening. Clin Orthop. Jan 1990;(250):8-26. [Medline].
Jia L, Ho NC, Park SS, et al. Comprehensive resource: Skeletal gene database. Am J Med Genet. Winter 2001;106(4):275-81. [Medline].
Kennelly MM, Moran P. A clinical algorithm of prenatal diagnosis of Radial Ray Defects with two and three dimensional ultrasound. Prenat Diagn. Aug 2007;27(8):730-7. [Medline].
Lachman RS. International nomenclature and classification of the osteochondrodysplasias (1997). Pediatr Radiol. Oct 1998;28(10):737-44. [Medline].
Lachman RS, Rappaport V. Fetal imaging in the skeletal dysplasias. Clin Perinatol. Sep 1990;17(3):703-22. [Medline].
Leka SK, Kitsiou-Tzeli S, Kalpini-Mavrou A, Kanavakis E. Short stature and dysmorphology associated with defects in the SHOX gene. Hormones (Athens). Apr-Jun 2006;5(2):107-18. [Medline].
Ngo C, Viot G, Aubry MC, et al. First-trimester ultrasound diagnosis of skeletal dysplasia associated with increased nuchal translucency thickness. Ultrasound Obstet Gynecol. Aug 2007;30(2):221-6. [Medline].
Orioli IM, Castilla EE, Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias. J Med Genet. Aug 1986;23(4):328-32. [Medline].
Rimoin DL. Molecular defects in the chondrodysplasias. Am J Med Genet. May 3 1996;63(1):106-10. [Medline].
Rimoin DL, Lachman R, Unger S. Chondrodysplasias. In: Emery and Rimoin's Principles and Practice of Medical Genetics. Vol 3. 4th ed. London, England: Churchill Livingstone; 2002:4071-115.
Rimoin DL, Lachman RS. Genetic disorders of the osseous skeleton. In: Beighton P, ed. McKusick's Heritable Disorders of Connective Tissue. 5th ed. Mosby-Year Book; 1993:557-689.
Romero R, Athanassiadis AP, Jeanty P. Fetal skeletal anomalies. Radiol Clin North Am. Jan 1990;28(1):75-99. [Medline].
Ruano R, Molho M, Roume J, Ville Y. Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography. Ultrasound Obstet Gynecol. Aug 2004;24(2):134-40. [Medline].
Sillence DO, Rimoin DL, Lachman R. Neonatal dwarfism. Pediatr Clin North Am. Aug 1978;25(3):453-83. [Medline].
Spirt BA, Oliphant M, Gottlieb RH, Gordon LP. Prenatal sonographic evaluation of short-limbed dwarfism: an algorithmic approach. Radiographics. Mar 1990;10(2):217-36. [Medline].
Unger S, Hecht JT. Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. Am J Med Genet. Winter 2001;106(4):244-50. [Medline].
Yang SS. Skeletal system: Osteochondrodysplasias and dysostoses. In: Gilbert-Barness E, ed. Potter's Pathology of the Fetus and Infant. Vol 2. St Louis, Mo: Mosby-Year Book; 1997:1423-78.
Yasui N, Kawabata H, Kojimoto H, et al. Lengthening of the lower limbs in patients with achondroplasia and hypochondroplasia. Clin Orthop. Nov 1997;(344):298-306. [Medline].
Further Reading
Keywords
skeletal dysplasia, disproportional short stature, short stature, dwarfism, osteochondrodysplasias, thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta, achondrogenesis, chondrodysplasia punctata, homozygous achondroplasia, chondrodysplasia punctata, camptomelic dysplasia, congenital lethal hypophosphatasia, perinatal lethal type of osteogenesis imperfecta, short-rib polydactyly syndromes, hypochondroplasia, rhizomelic type of chondrodysplasia punctata, Jansen-type metaphyseal dysplasia, spondyloepiphyseal dysplasia congenita, atelosteogenesis, diastrophic dysplasia, congenital short femur, Langer-type mesomelic dysplasia, Nievergelt-type mesomelic dysplasia, Robinow syndrome, Reinhardt syndrome, acrodysostosis, peripheral dysostosis, Kniest dysplasia, fibrochondrogenesis, Roberts syndrome, acromesomelic dysplasia, micromelia, Morquio syndrome, Kniest syndrome, metatrophic dysplasia, spondyloepimetaphyseal dysplasia
