References
- Spranger JW, Brill PW, Poznanski AB. Bone dysplasias: an atlas of genetic disorders of skeletal development.2nd edOxford: Oxford University Press; 2002. pp 38–40, pp 155–159.
- Krakow D, Alanay Y, Rimoin LP, Lin V, Wilcox WR, Lachman RS, Rimoin DL. Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A 2008;146:1917–1924.
- Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med 2009;11:127–133.
- 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;21:18–21.
- Miyazaki O, Nishimura G, Sago H, Watanabe N, Ebina S. Prenatal diagnosis of chondrodysplasia punctata tibia-metacarpal type using multidetector CT and three-dimensional reconstruction. Pediatr Radiol 2007;37:1151–1154.
- Tsutsumi S, Sawai H, Nishimura G, Hayasaka K, Kurachi H. Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis. Fetal Diagn Ther 2008;24:420–424.
- Schramm T, Gloning KP, Minderer S, Daumer-Haas C, Hörtnagel K, Nerlich A, Tutschek B. Prenatal sonographic diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol 2009;34:160–170.
- 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 2004;24:134–140.
- Cassart M, Massez A, Cos T, Tecco L, Thomas D, Van Regemorter N, Avni F. Contribution of three-dimensional computed tomography in the assessment of fetal skeletal dysplasia. Ultrasound Obstet Gynecol 2007;29:537–543.
- Dighe M, Fligner C, Cheng E, Warren B, Dubinsky T. Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases. Radiographics 2008;28:1061–1077.
- Bromley B, Miller W, Foster SC, Benacerraf BR. The prenatal sonographic features of Kniest syndrome. J Ultrasound Med 1991;10:705–707.
- Kerleroux J, Roux MS, Cottin X. The difficulty of prenatal diagnosis of Kniest's disease. A propos of a case simulating congenital spondylo-epiphyseal dysplasia. J Gynecol Obstet Biol Reprod (Paris) 1994;23:69–74.
- Cuillier F, Cartault F, Chaitali Shah, Lemaire P, Alessandri JL. Kniest syndrome. Internet. 2004. In: The Fetus net. Electronic Citation http://www.thefetus.net/page.php?id=1397 via the INTERNET . Last accessed 2 December 2009.
- Westvik J, Lachman RS. Coronal and sagittal clefts in skeletal dysplasias. Pediatr Radiol 1998;28:764–770.
- Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M, Shirahama S, Itoh T, Nakashima E, Ohashi H, Ikegawa S. The phenotypic spectrum of COL2A1 mutations. Hum Mutat 2005;26:36–43.