Literature DB >> 1999834

Spondylocostal dysplasia and neural tube defects.

G P Giacoia1, B Say.   

Abstract

Spondylocostal dysplasia (Jarcho-Levin syndrome) comprises multiple malformations of the vertebrae and ribs coupled with a characteristic clinical picture of short neck, scoliosis, short trunk, and deformity of the rib cage. We describe a patient with the syndrome who also had spina bifida and diastematomyelia. We surmise that this association is not coincidental. Additional evidence is needed to support the hypothesis that spondylocostal dysplasia and neural tube defects are aetiologically related.

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Year:  1991        PMID： 1999834      PMCID： PMC1016749          DOI： 10.1136/jmg.28.1.51

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  10 in total

1.  Neural defects in Jarcho-Levin syndrome.

Authors:  M G Reyes; A Morales; V Harris; T M Barreta; H Goldbarg
Journal:  J Child Neurol       Date:  1989-01       Impact factor: 1.987

2.  The local cord lesion in neurospinal dysraphism (meningomyelocele).

Authors:  J L Emery; R G Lendon
Journal:  J Pathol       Date:  1973-05       Impact factor: 7.996

3.  Bizarre deformities in offspring of user of lysergic acid diethylamide.

Authors:  J L Eller; J M Morton
Journal:  N Engl J Med       Date:  1970-08-20       Impact factor: 91.245

4.  Congenital vertebral anomalies: aetiology and relationship to spina bifida cystica.

Authors:  R Wynne-Davies
Journal:  J Med Genet       Date:  1975-09       Impact factor: 6.318

5.  Nonskeletal malformations in one of three siblings with Jarcho-Levin syndrome of vertebral anomalies.

Authors:  M A Poor; O Alberti; N T Griscom; S G Driscoll; L B Holmes
Journal:  J Pediatr       Date:  1983-08       Impact factor: 4.406

6.  Spondylothoracic dysplasia. A report of ten cases with follow-up.

Authors:  H Z Herold; M Edlitz; A Baruchin
Journal:  Spine (Phila Pa 1976)       Date:  1988-05       Impact factor: 3.468

7.  Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling.

Authors:  S Aymé; M Preus
Journal:  Am J Med Genet       Date:  1986-08

8.  Rib anomalies in myelodysplasia. An approach to embryologic inference.

Authors:  J E McLennan
Journal:  Biol Neonate       Date:  1976

9.  A radiological study of vertebral and rib malformations in children with myelomeningocele.

Authors:  D R Naik; R G Lendon; A J Barson
Journal:  Clin Radiol       Date:  1978-07       Impact factor: 2.350

10.  Are congenital vertebral anomalies and spina bifida cystica aetiologically related?

Authors:  R G Lendon; R Wynne-Davies; M Lendon
Journal:  J Med Genet       Date:  1981-12       Impact factor: 6.318
  10 in total
  16 in total

1.  Neurosurgical management of a large meningocele in Jarcho-Levin syndrome: clinical and radiological pearls.

Authors:  Jaime L Martinez Santos; Adam A Dmytriw; Sonia Fermin
Journal:  BMJ Case Rep       Date:  2015-07-21

2.  Spondylocostal dysostosis.

Authors:  A Kher; M Bhat; K L Ratnam; S Khambadkone; B A Bharucha; S F Irani
Journal:  Indian J Pediatr       Date:  1993 Nov-Dec       Impact factor: 1.967

Review 3.  Congenital and idiopathic scoliosis: clinical and genetic aspects.

Authors:  Philip F Giampietro; Robert D Blank; Cathleen L Raggio; Sajid Merchant; F Stig Jacobsen; Thomas Faciszewski; Sanjay K Shukla; Anne R Greenlee; Cory Reynolds; David B Schowalter
Journal:  Clin Med Res       Date:  2003-04

4.  Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.

Authors:  S B Dowton; A V Hing; V Sheen-Kaniecki; M S Watson
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

5.  Tomographic assessment of the spine in children with spondylocostal dysotosis syndrome.

Authors:  Ali Al Kaissi; Klaus Klaushofer; Franz Grill
Journal:  Clinics (Sao Paulo)       Date:  2010       Impact factor: 2.365

Review 6.  Sprengel's deformity and spinal dysraphism: connecting the shoulder and the spine.

Authors:  J van Aalst; J S H Vles; I Cuppen; D A Sival; E H Niks; L W Van Rhijn; M A M Van Steensel; E M J Cornips
Journal:  Childs Nerv Syst       Date:  2013-07       Impact factor: 1.475

7.  Pathogenesis of diastematomyelia: can a surgical model in the chick embryo give some clues about the human malformation?

Authors:  B Rilliet; J Schowing; J Berney
Journal:  Childs Nerv Syst       Date:  1992-09       Impact factor: 1.475

8.  Jarcho-Levin syndrome.

Authors:  M L Kulkarni; Sarfaraz R Navaz; H N Vani; K S Manjunath; Deepa Matani
Journal:  Indian J Pediatr       Date:  2006-03       Impact factor: 5.319

9.  Jarcho-Levin syndrome with diastematomyelia: A case report and review of literature.

Authors:  Ritesh Kansal; Amit Mahore; Sanjay Kukreja
Journal:  J Pediatr Neurosci       Date:  2011-07

10.  A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas.

Authors:  M Cirstoiu; O Munteanu; O Bodean; C Cirstoiu
Journal:  J Med Life       Date:  2013-03-25
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