Skip to main content
SpringerLink
Log in

Abnormal Vertebral Segmentation (or Segmentation Defects of the Vertebrae) and the Spondylocostal Dysostoses

  • Chapter
  • First Online:
The Genetics and Development of Scoliosis

Abstract

In the most commonly occurring form of scoliosis in clinical practice, adolescent idiopathic scoliosis, there is no apparent malformation of the vertebrae. The process of segmentation that gives rise to somites, followed by resegmentation giving rise to vertebrae, and the subsequent formation of the vertebrae all appear normal. Abnormal formation of the vertebrae, for example, in some of the skeletal dysplasias that give rise to platyspondyly, may not necessarily be accompanied by scoliosis. In conditions with segmentation defects of the vertebrae (SDV), scoliosis is a frequent feature, though to a very variable and unpredictable degree. These conditions frequently present as

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 149.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 199.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  • Aburakawa, K., Harada, M., and Otake, S. 1996. Clinical evaluations of the treatment of congenital scoliosis. Orthop. Surg. and Trauma 39:55–62.

    Google Scholar 

  • Aurora, P., Wallis, C.E., and Winter, R.M. 1996. The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report. Clin. Dysmorphol. 5:165–169.

    Google Scholar 

  • Aymé, S. and Preus, M. 1986. Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counselling. Am. J. Med. Genet. 24:599–606.

    Article  PubMed  Google Scholar 

  • Bartsocas, C.S., Kiossoglou, K.A., Papas, C.V., et al. 1981. Spondylocostal dysostosis in South African sisters. Clin. Genet. 19:23–25.

    Google Scholar 

  • Bessho, Y., Sakata, R., Komatsu, S., Shiota, K., Yamada, S., and Kageyama, R. 2001. Dynamic expression and essential functions of Hes7 in somite segmentation. Genes Develop. 15:2642–2647.

    Google Scholar 

  • Bohring, A., Lewin, S.O., Reynolds, J.F. et al. 1999. Polytopic anomalies with agenesis of the lower vertebral column. Am. J. Med. Genet. 87:99–114.

    Article  PubMed  Google Scholar 

  • Bonaime, J.L., Bonne, B., Joannard, A. et al. 1978. Le syndrome de dysostose spondylothoracique ou spondylocostale. Pédiatrie 33:173–188.

    PubMed  Google Scholar 

  • Bruckner, K., Perez, L., Clausen, H. et al. 2000. Glycosyltransferase activity of Fringe modulates Notch-Delta interactions. Nature 406:411–415.

    Article  PubMed  Google Scholar 

  • Bulman, M.P., Kusumi, K., Frayling, T.M. et al. 2000. Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nature Genet. 24:438–441.

    PubMed  Google Scholar 

  • Cantú, J.M., Urrusti, J., Rosales, G. et al. 1971. Evidence for autosomal recessive inheritance of costovertebral dysplasia. Clin. Genet. 2:149–154.

    PubMed  Google Scholar 

  • Casamassima, A.C., Morton, C.C., Nance, W.E. et al. 1981. Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. Am. J. Med. Genet. 8:117–127.

    Article  PubMed  Google Scholar 

  • Chen, J., Moloney, D.J., and Stanley, P. 2001. Fringe modulation of Jagged1-induced Notch signaling requires the action of beta 4 galactosyltransferase-1. Proc. Natl. Acad. Sci. U. S. A 98:13716–13721.

    PubMed  Google Scholar 

  • Clarke, R., Catalan, G., Diwan, A., Kearsley, J. 1998. Heterogenetiy in Klippel-Feil syndrome: a new classification. Pediatr. Radiol. 28:967–974.

    Article  PubMed  Google Scholar 

  • Cornier, A.S., Ramrez-Lluch, N., Arroyo, S. et al. 2000. Natural history of Jarcho-Levin syndrome (Abstract). Am. J. Hum. Genet. 67(4)(Suppl.2):56(A238).

    Google Scholar 

  • Cornier, A.S., Ramírez, N., Arroyo, S. et al. 2004. Phenotype characterisation and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases. Am. J. Med. Genet. 128A: 120–126.

    Article  PubMed  Google Scholar 

  • Cornier, A.S., Staehling-Hampton, K., Delventhal, K.M. et al. 2008. Mutations in the MESP2 gene cause spondylothoracic Dysostosis/Jarcho-Levin syndrome. Am. J. Hum. Genet. 82:1334–1341.

    Article  PubMed  Google Scholar 

  • Correia, T. et al. 2003. Molecular genetic analysis of the glycosyltransferase Fringe in Drosophila. Proc. Natl. Acad. Sci. U. S. A. 100:6404–6409.

    Article  PubMed  Google Scholar 

  • Crow, Y.J., Tolmie, J.L., Rippard, K. et al. 1997. Spondylocostal dysostosis associated with a 46,XX,+15,dic(6;15)(q25;q11.2) translocation. Clin. Dysmorphol. 6:347–350.

    Article  PubMed  Google Scholar 

  • Daikha-Dahmane, F., Huten, Y., Morvan, J., Szpiro-Tapia, S., Nessmann, C., and Eydoux, P. 1998. Fetus with Casamassima-Morton-Nance syndrome and an inherited (6;9) balanced translocation. Am. J. Med. Genet. 80:514–517.

    Article  PubMed  Google Scholar 

  • David, T.J. and Glass, A. 1983. Hereditary costovertebral dysplasia with malignant cerebral tumour. J. Med. Genet. 20:441–444.

    PubMed  Google Scholar 

  • De Grouchy, J., Mlynarski, J.C., Maroteaux, P. et al. 1963. Syndrome polydysspondylique par translocation 14–15 et dyschondrostéose chez un même sujet. Ségrégation familiale. C. R. Acad. Sci. [D] Paris 256:1614–1616.

    Google Scholar 

  • Delgoffe, C., Hoeffel, J.C., Worms, A.M. et al. 1982. Dysostoses spondylocostales et cardiopathies congénitales. Ann. Pédiat. 29:135–139.

    PubMed  Google Scholar 

  • Devos, E.A., Leroy, J.G., Braeckman, J.J. et al. 1978. Spondylocostal dysostosis and urinary tract anomaly: definition and review of an entity. Eur. J. Paed. 128:7–15.

    Google Scholar 

  • Dowton, S.B., Hing, A.V., Sheen-Kaniecki, V. et al. 1997. Chromosome 18q22.2-qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects. J. Med. Genet. 34:414–417.

    Article  PubMed  Google Scholar 

  • Dunwoodie, S.L., Henrique, D., Harrison, S.M. et al. 1997. Mouse Dll3: a novel divergent Delta gene which may complement the function of other Delta homologues during early pattern formation in the mouse embryo. Development 124:3065–3076.

    PubMed  Google Scholar 

  • Dunwoodie, S.L., Clements, M., Sparrow, D.B. et al. 2002. Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm. Development 129:1795–1806.

    PubMed  Google Scholar 

  • Eliyahu, S., Weiner, E., Lahav, D. et al. 1997. Early sonographic diagnosis of Jarcho-Levin syndrome: a prospective screening program in one family. Ultrasound Obstet. Gynecol. 9:314–318.

    Article  PubMed  Google Scholar 

  • Eller, J.L. and Morton, J.M. 1976. Bizarre deformities in offspring of user of lysergic acid diethylamide. New Eng. J. Med. 283:395–397.

    Google Scholar 

  • Erol, B., Tracy, M.R., Dormans, J.P., Zackai, E.H., Maisenbacher, M.K., O’Brien, M.L., Turnpenny, P.D., and Kusumi, K. 2004. Congenital scoliosis and vertebral malformations: characterization of segmental defects for genetic analysis. J. Pediatr. Orthop. 24:674–682.

    Google Scholar 

  • Feil, A. 1919. L’absence et la diminution des vertebres cervicales (etude clinique et pathologique); le syndrome de recution numeriique cervicale. Thesis de Paris.

    Google Scholar 

  • Floor, E., De Jong, R.O., Fryns, J.P. et al. 1989. Spondylocostal dysostosis: an example of autosomal dominant inheritance in a large family. Clin. Genet. 36:236–241.

    PubMed  Google Scholar 

  • Geffers, I., Serth, K., Chapman, G. et al. 2007. Divergent functions and distinct localization of the Notch ligands DLL1 and DLL3 in vivo. J. Cell Biol. 178(3):465–476.

    Article  PubMed  Google Scholar 

  • Gellis, S.S. and Feingold, M. 1976. Picture of the month: spondylothoracic dysplasia. Am. J. Dis. Child 130:513–514.

    PubMed  Google Scholar 

  • Giacoia, G.P. and Say, B. 1991. Spondylocostal dysplasia and neural tube defects. J. Med. Genet. 28:51–53.

    Article  PubMed  Google Scholar 

  • Giampietro, P.F., Raggio, C.L., and Blank, R.D. 1999. Synteny-defined candidate genes for congenital and idiopathic scoliosis. Am. J. Med. Genet. 83:164–177.

    Article  PubMed  Google Scholar 

  • Giampietro, P.F., Raggio, C.L., Reynolds, C. et al. 2006. DLL3 as a candidate gene for vertebral malformations. Am. J. Med. Genet. A 140(22):2447–2453.

    PubMed  Google Scholar 

  • Gridley, T. 1997. Notch signaling in vertebrate development and disease. Mol. Cell. Neurosci. 9:103–108.

    Article  PubMed  Google Scholar 

  • Gridley, T. 2003. Notch signaling and inherited disease syndromes. Hum. Mol. Genet. 12(Rev 1):R9–R13.

    Article  CAS  PubMed  Google Scholar 

  • Grüneberg, H. 1961. Genetical studies on the skeleton of the mouse. Genet. Res. Camb. 2:384–393.

    Google Scholar 

  • Haines, N. and Irvine, K.D. 2003. Glycosylation regulates Notch signalling. Nat. Rev. Mol. Cell. Biol. 4:786–797.

    PubMed  Google Scholar 

  • Harper, J.A., Yuan, J.S., Tan, J.B. et al. 2003. Notch signaling in development and disease. Clin. Genet. 64:461–472.

    Article  PubMed  Google Scholar 

  • Herold, H.Z., Edlitz, M., and Barochin, A. 1988. Spondylothoracic dysplasia. Spine 13:478–481.

    Article  PubMed  Google Scholar 

  • Jarcho, S. and Levin, P.M. 1938. Hereditary malformation of the vertebral bodies. Bull. Johns Hopkins Hosp. 62:216–226.

    Google Scholar 

  • Joutel, A., and Tournier-Lasserve, E. 1998. Notch signalling and human disease. Cell. Dev. Biol. 9:619–625.

    Google Scholar 

  • Karnes, P.S., Day, D., Barry, S.A. et al. 1991. Jarcho-Levin syndrome: four new cases and classification of subtypes. Am. J. Med. Genet. 40:264–270.

    Article  PubMed  Google Scholar 

  • Kozlowski, K. 1984. Spondylo-costal dysplasia. Fortschr. Röntgenstr. 140:204–209.

    Google Scholar 

  • Kusumi, K., Sun, E.S., Kerrebrock, A.W. et al. 1998. The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundaries. Nat. Genet. 19:274–278.

    Article  PubMed  Google Scholar 

  • Kusumi, K., Dunwoodie, S.L., Krumlauf, R. 2001. Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system. Mech. Dev. 100:141–144.

    Article  PubMed  Google Scholar 

  • Kusumi, K., Mimoto, M.S., Covello K. et al. 2004. Dll3 pudgy mutation differentially disrupts dynamic expression of somite genes. Genesis 39:115–121.

    Article  PubMed  Google Scholar 

  • Ladi, E., Nichols, J.T., Ge, W. et al. 2005. The divergent DSL ligand Dll3 does not activate Notch signaling but cell autonomously attenuates signaling induced by other DSL ligands. J. Cell Biol. 170:983–992.

    Article  PubMed  Google Scholar 

  • Lavy, N.W., Palmer, C.G., and Merritt, A.D. 1966. A syndrome of bizarre vertebral anomalies. J. Pediatr. 69:1121–1125.

    PubMed  Google Scholar 

  • Lendon, R.G., Wynne-Davies, R., and Lendon, M. 1981. Are congenital vertebral anomalies and spina bifida cystica aetiologically related? J. Med. Genet. 18:424–427.

    Article  PubMed  Google Scholar 

  • Lin, A.E. and Harster, G.A. 1993. Another case of spondylocostal dyplasia and severe anomalies (letter). Am. J. Med. Genet. 46:476–477.

    PubMed  Google Scholar 

  • McCall, C.P., Hudgins, L., Cloutier, M. et al. 1994. Jarcho-Levin syndrome: unusual survival in a classical case. Am. J. Med. Genet. 49:328–332.

    Article  PubMed  Google Scholar 

  • McGrew, M.J., Pourquié, O. 1998. Somitogenesis: segmenting a vertebrate. Curr. Opinion Genet. Dev. 8:487–493.

    Article  Google Scholar 

  • McLennan, J.E. 1976. Rib anomalies in myelodysplasia. Biol. Neonate 29:129–141.

    PubMed  Google Scholar 

  • McMaster, M.J. and Singh, H. 1999. Natural history of congenital kyphosis and congenital kyphoscoliosis. A study of one hundred and twelve patients. J. Bone. Joint Surg. Am. 81:1367–1383.

    PubMed  Google Scholar 

  • Maisenbacher, M.K., Han, J.S., O’Brien, M.L. et al. 2005. Molecular analysis of congenital scoliosis: a candidate gene approach. Hum. Genet. 116(5):416–419.

    Article  PubMed  Google Scholar 

  • Martínez-Frías, M.L., Bermejo, E., Paisán, L. et al. 1994. Severe spondylocostal dysostosis associated with other congenital anomalies: a clinical/epidemiological analysis and description of ten cases from the Spanish Registry. Am. J. Med. Genet. 51:203–212.

    PubMed  Google Scholar 

  • Martínez-Frías, M.L. 1996. Multiple vertebral segmentation defects and rib anomalies. Am. J. Med. Genet. 66:91.

    Article  PubMed  Google Scholar 

  • Massari, M.E. and Murre, C. 2000. Helix-loop-helix proteins: regulators of transcription in eucaryotic organisms. Mol. Cell Biol. 20:429–440.

    Article  PubMed  Google Scholar 

  • Moloney, D.J. et al. 2000. Fringe is a glycosyltransferase that modifies Notch. Nature 406:369–375.

    Article  PubMed  Google Scholar 

  • Mortier, G.R., Lachman, R.S., Bocian, M. et al. 1996. Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. Am. J. Med. Genet. 61:310–319.

    Article  PubMed  Google Scholar 

  • Moseley, J.E. and Bonforte, R.J. 1969. Spondylothoracic dysplasia – a syndrome of congenital anomalies. Am. J. Roentgenol. 106:166–169.

    Google Scholar 

  • Murr, M.M., Waziri, M.H., Schelper, R.L. et al. 1992. Case of multiple vertebral anomalies, cloacal dysgenesis, and other anomalies presenting prenatally as cystic kidneys. Am. J. Med. Genet. 42:761–765.

    Article  PubMed  Google Scholar 

  • Naik, P.R., Lendon, R.G., and Barson, A.J. 1978. A radiological study of vertebral and rib malformations in children with myelomeningocele. Clin. Radiol. 29:427–430.

    PubMed  Google Scholar 

  • Nakano, S., Okuno, T., Hojo, H. et al. 1977. 18p- syndrome associated with hemivertebrae, fused ribs and micropenis. Jpn. J. Hum. Genet. 22:27–32.

    Google Scholar 

  • Norum, R.A. and McKusick, V.A. 1969. Costovertebral anomalies with apparent recessive inheritance. Birth Defects O.A.S. 18:326–329.

    Google Scholar 

  • Novak, R.W. and Robinson, H.B. 1994. Coincident DiGeorge anomaly and renal agenesis and its relation to maternal diabetes. Am. J. Med. Genet. 50:311–312.

    Article  PubMed  Google Scholar 

  • Offiah, A.C. and Hall, C.M. 2003. Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C? Pediatr. Radiol. 33:153–161.

    Article  PubMed  Google Scholar 

  • Ohzeki, T., Shiraishi, M., Matsumoto, Y. et al. 1990. Sporadic occurrence of spondylocostal dysplasia and mesocardia in a Japanese girl. Am. J. Med. Genet. 37:427–428

    Article  PubMed  Google Scholar 

  • Pérez-Comas, A., and García-Castro, J.M. 1974. Occipito-facial-cervico-thoracic-abdomino-digital dysplasia: Jarcho-Levin syndrome of vertebral anomalies. J. Pediatr. 85:388–391.

    PubMed  Google Scholar 

  • Pochaczevsky, R., Ratner, H., Perles, D. et al. 1971. Spondylothoracic dysplasia. Radiology 98:53–58.

    PubMed  Google Scholar 

  • Poor, M.A., Alberti, A., Griscom, T. et al. 1983. Nonskeletal malformations in one of three siblings with Jarcho-Levin syndrome of vertebral anomalies. J. Pediatr. 103:270–272.

    PubMed  Google Scholar 

  • Pourquié O. 1999. Notch around the clock. Curr. Opinion Genet. Dev. 9:559–565.

    Article  Google Scholar 

  • Pourquié, O., Kusumi, K. 2001. When body segmentation goes wrong. Clin. Genet. 60:409–416.

    PubMed  Google Scholar 

  • Purkiss, S.B., Driscoll, B., Cole, W.G. et al. 2002. Idiopathic scoliosis in families of children with congenital scoliosis. Clin. Orthop. Relat. Res. 401:27–31.

    Article  PubMed  Google Scholar 

  • Rastogi, D., Rosenzweig, E.B., and Koumbourlis, A. 2002. Pulmonary hypertension in Jarcho-Levin syndrome. Am. J. Med. Genet. 107:250–252.

    Article  PubMed  Google Scholar 

  • Reyes, M.C., Morales, A., Harris, V. et al. 1989. Neural defects in Jarcho-Levin syndrome. J. Child Neurol. 4:51–54.

    Article  PubMed  Google Scholar 

  • Riccardi, V.M. 1977. Trisomy 8: an international study of 70 patients. Birth Defects O.A.S. XIII(3C):171–184.

    Google Scholar 

  • Roberts, A.P., Conner, A.N., Tolmie, J.L. et al. 1988. Spondylothoracic and spondylocostal dysostosis. J. Bone Joint Surg. 70B:123–126.

    Google Scholar 

  • Saga, Y., Hata, N., Koseki, H. et al. 1997. Mesp2: a novel mouse gene expressed in the presegmented mesoderm and essential for segmentation initiation. Genes Dev. 11:1827–1839.

    Article  PubMed  Google Scholar 

  • Schulman, M., Gonzalez, M.T., and Bye, M.R. 1993. Airway abnormalities in Jarcho-Levin syndrome: a report of two cases. J. Med. Genet. 30:875–876.

    Google Scholar 

  • Sharma, A.K. and Phadke, S.R. 1994. Another case of spondylocostal dysplasia and severe anomalies: a diagnostic and counseling dilemma. Am. J. Med. Genet. 50:383–384.

    PubMed  Google Scholar 

  • Simpson, J.M., Cook, A., Fagg, N.L.K. et al. 1995. Congenital heart disease in spondylothoracic dysostosis: two familial cases. J. Med. Genet. 32:633–635.

    Article  PubMed  Google Scholar 

  • Solomon, L., Jimenez, B., and Reiner, L. 1978. Spondylothoracic dysostosis. Arch. Pathol. Lab. Med. 102:201–205.

    PubMed  Google Scholar 

  • Sparrow, D.B., Chapman, G., Wouters, M.A. et al. 2006. Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am. J. Hum. Genet. 78:28–37.

    Article  PubMed  Google Scholar 

  • Sparrow, D.B., Guillén-Navarro, E., Fatkin, D., and Dunwoodie, S.L. 2008. Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. Hum. Mol. Genet. 17(23):3761–3766.

    Article  PubMed  Google Scholar 

  • Superti-Furga, A., and Unger, S. 2007. Nosology and classification of genetic skeletal disorders: 2006 revision. Am. J. Med. Genet. 143:1–18.

    PubMed  Google Scholar 

  • Takahashi, Y., Koizumi, K., Takagi, A. et al. 2000. Mesp2 initiates somite segmentation through the Notch signalling pathway. Nat. Genet. 25:390–396.

    PubMed  Google Scholar 

  • Takahashi, Y., Inoue, T., Gossler, A. et al. 2003. Feedback loops comprising Dll1, Dll3 and Mesp2, and differential involvement of Psen1 are essential for rostrocaudal patterning of somites. Development 130:4259–4268.

    PubMed  Google Scholar 

  • Takikawa, K., Haga, N., Maruyama, T., Nakatomi, A., Kondoh, T., Makita, Y., Hata, A., Kawabata, H., and Ikegawa, S. 2006. Spine and rib abnormalities and stature in spondylocostal dysostosis. Spine 31:E192–E197.

    Article  PubMed  Google Scholar 

  • Thomsen, M., Schneider, U., Weber, M., Johannisson, R., Niethard, F. 1997. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I–III. Spine 22:396–401.

    PubMed  Google Scholar 

  • Tolmie, J.L., Whittle, M.J., McNay, M.B. et al. 1987. Second trimester prenatal diagnosis of the Jarcho-Levin syndrome. Prenat. Diagn. 7:129–134.

    PubMed  Google Scholar 

  • Trindade, C.E.P., and de Nóbrega, F.J. 1977. Spondylothoracic dysplasia in two siblings. Clin. Pediatr. 16:1097–1099.

    Article  Google Scholar 

  • Turnpenny, P.D., Thwaites, R.J., and Boulos, F.N. 1991. Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis. J. Med. Genet. 28:27–33.

    Article  PubMed  Google Scholar 

  • Turnpenny, P.D., Bulman, M.P., Frayling, T.M. et al. 1999. A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Am. J. Hum. Genet. 65:175–182.

    Article  PubMed  Google Scholar 

  • Turnpenny, P.D., Whittock, N.V., Duncan, J. et al. 2003. Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. J. Med. Genet. 40:333–339.

    Article  PubMed  Google Scholar 

  • Turnpenny, P.D., Alman, B., Cornier, A.S., Giampietro, P.F., Offiah, A., Tassy, O., Pourquié, O., Kusumi, K., and Dunwoodie, S. 2007. Abnormal vertebral segmentation and the Notch signaling pathway in man. Dev. Dyn. 236:1456–1474.

    Article  PubMed  Google Scholar 

  • Whittock, N.V., Ellard, S., Duncan, J. et al. 2004a. Pseudo-dominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations. Clin. Genet. 66:67–72.

    Article  PubMed  Google Scholar 

  • Whittock, N.V., Sparrow, D.B., Wouters, M.A. et al. 2004b. Mutated MESP2 causes spondylocostal dysostosis in humans. Am. J. Hum. Genet. 74:1249–1254.

    Article  PubMed  Google Scholar 

  • Wynne-Davies, R. 1975. Congenital vertebral anomalies: aetiology and relationship to spina bifida cystica. J. Med. Genet. 12:280–288.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Clinical Genetics Department, Royal Devon & Exeter Hospital and Peninsula Medical School, Exeter, EX1 2ED, UK

    Peter D. Turnpenny

Authors
  1. Peter D. Turnpenny
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Peter D. Turnpenny .

Editor information

Editors and Affiliations

  1. School of Life Sciences, Arizona State University, Tempe, 85287-4501, U.S.A.

    Kenro Kusumi

  2. St. Vincent's Hospital, Victoria Street 438 , Darlinghurst, 2010, Australia

    Sally L. Dunwoodie

Rights and permissions

Reprints and permissions

Copyright information

© 2010 Springer Science+Business Media, LLC

About this chapter

Cite this chapter

Turnpenny, P.D. (2010). Abnormal Vertebral Segmentation (or Segmentation Defects of the Vertebrae) and the Spondylocostal Dysostoses. In: Kusumi, K., Dunwoodie, S. (eds) The Genetics and Development of Scoliosis. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-1406-4_5

Download citation

Publish with us

Policies and ethics

Search

Navigation