Literature DB >> 24179936

Urolithiasis in a child with Spondylocarpotarsal Synostosis Syndrome: A Co-Incidence.

Ankur Singh1, Seema Kapoor, Gaurav Pradhan.   

Abstract

Spondylocarpotarsal synostosis syndrome (SSS) is an autosomal recessive condition which is characterized by short stature, a carpotarsal coalition and a vertebral fusion, but without any rib anomaly. We are presenting a 7- year- old boy, who had uroliathiasis with the spondylocarpotarsal synostosis syndrome. This association, to the best of our knowledge, has not been reported so far.

Entities:  

Keywords:  Spondylocarpotarsal synostosis syndrome; Uroliathiasis

Year:  2013        PMID： 24179936      PMCID： PMC3809675          DOI： 10.7860/JCDR/2013/5605.3398

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN： 0973-709X


  8 in total

1.  A recessive form of congenital scoliosis different from spondylothoracic dysplasia.

Authors:  L O Langer; J H Moe
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  Spondylothoracic dysplasia: prenatal diagnosis and the problems of nosologic overlap.

Authors:  Shubha R Phadke; Siddramappa J Patil; Niraj Kumari; Narendra Krishnani
Journal:  Am J Med Genet A       Date:  2007-04-15       Impact factor: 2.802

3.  Second trimester prenatal diagnosis of the Jarcho-Levin syndrome.

Authors:  J L Tolmie; M J Whittle; M B McNay; A A Gibson; J M Connor
Journal:  Prenat Diagn       Date:  1987-02       Impact factor: 3.050

4.  The treatment of spine and chest wall deformities with fused ribs by expansion thoracostomy and insertion of vertical expandable prosthetic titanium rib: growth of thoracic spine and improvement of lung volumes.

Authors:  John B Emans; Jean François Caubet; Claudia L Ordonez; Edward Y Lee; Michelle Ciarlo
Journal:  Spine (Phila Pa 1976)       Date:  2005-09-01       Impact factor: 3.468

Review 5.  Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar).

Authors:  L O Langer; R J Gorlin; D Donnai; B C Hamel; C Clericuzio
Journal:  Am J Med Genet       Date:  1994-05-15

6.  Spondylocarpotarsal synostosis with epiphyseal dysplasia.

Authors:  Christina Honeywell; Leonard Langer; Judith Allanson
Journal:  Am J Med Genet       Date:  2002-05-15

Review 7.  Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means.

Authors:  Marco Teli; Harish Hosalkar; Inder Gill; Hilali Noordeen
Journal:  Spine (Phila Pa 1976)       Date:  2004-07-01       Impact factor: 3.468

8.  A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14.

Authors:  C Steiner; N Ehtesham; K D Taylor; E Sebald; R Cantor; L M King; X Guo; T Hang; M S Hu; J-R Cui; B Friedman; D Norato; J Allanson; C Honeywell; G Mettler; F Field; R Lachman; D H Cohn; D Krakow
Journal:  J Med Genet       Date:  2004-04       Impact factor: 6.318
  8 in total
  1 in total

1.  Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.

Authors:  Raphael Carapito; Alice Goldenberg; Nicodème Paul; Angélique Pichot; Albert David; Antoine Hamel; Clémentine Dumant-Forest; Julien Leroux; Benjamin Ory; Bertrand Isidor; Seiamak Bahram
Journal:  Eur J Hum Genet       Date:  2016-07-06       Impact factor: 4.246
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.