Literature DB >> 350188

Spondylothoracic dysostosis: report of two cases and review of the literature.

L Solomon, R B Jimenez, L Reiner.   

Abstract

Two Puerto Rican infants, offsprings of nonconsanguineous parents, died with spondylothoracic dysostosis as characterized by widespread anomalies of the spine (malformed vertebral bodies including hemivertebrae), deformity of the thorax, and fan-like configuration of the ribs. The disease was lethal in early life in the 18 cases previously reported. An autosomal-recessive inheritance has been described. Spondylocostal dysostosis, a related entity, showed associated intrinsic anomalies of the ribs. The 17 cases culled from the literature pursued a milder course, affected mainly older children and adults, and had a different pattern of inheritance.

Entities:  

Mesh：

Year:  1978        PMID： 350188

Source DB:  PubMed          Journal:  Arch Pathol Lab Med        ISSN： 0003-9985            Impact factor:   5.534


  9 in total

1.  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

Review 2.  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

3.  Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.

Authors:  Alberto S Cornier; Karen Staehling-Hampton; Kym M Delventhal; Yumiko Saga; Jean-Francois Caubet; Nobuo Sasaki; Sian Ellard; Elizabeth Young; Norman Ramirez; Simon E Carlo; Jose Torres; John B Emans; Peter D Turnpenny; Olivier Pourquié
Journal:  Am J Hum Genet       Date:  2008-05-15       Impact factor: 11.025

4.  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

5.  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

6.  Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases.

Authors:  Natarajan Muthukumar
Journal:  J Pediatr Neurosci       Date:  2015 Apr-Jun

7.  Rare association of spondylo costal dysostosis with split cord malformations type II: A case report and a brief review of literature.

Authors:  Bhavanam Hanuma Srinivas; Aneel Kumar Puligopu; Dinesh Sukhla; Prajnya Ranganath
Journal:  J Pediatr Neurosci       Date:  2014-05

8.  Expansion Thoracoplasty for Thoracic Insufficiency Syndrome Associated with Jarcho-Levin Syndrome.

Authors:  Ajeya P Joshi; Megan K Roth; James W Simmons; Felix Shardonofsky; Robert M Campbell
Journal:  JBJS Essent Surg Tech       Date:  2015-06-24

9.  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
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.