Literature DB >> 2287549

Caudal regression syndrome and spondyloepiphyseal dysplasia in a 6-year-old child. A new syndrome?

K Kozlowski1, L Bacha, L Brahimi, R Massen.   

Abstract

A 6-year-old Algerian boy with "caudal regression syndrome" and spondylo-epiphyseal dysplasia is reported. We believe this represents a new malformation syndrome or a random association of two non-related entities.

Entities:  

Mesh：

Year:  1990        PMID： 2287549     DOI： 10.1007/bf02010824

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  9 in total

1.  Bifurcation of the distal femur.

Authors:  W Küsswetter; K A Matzen; D Baumann
Journal:  Acta Orthop Scand       Date:  1976-12

2.  Ipsilateral femoral bifurcation and tibial hemimelia. A case report.

Authors:  J A Ogden
Journal:  J Bone Joint Surg Am       Date:  1976-07       Impact factor: 5.284

3.  Anterior sacral meningocele, anal canal duplication cyst and covered anus occurring in one family.

Authors:  I Aaronson
Journal:  J Pediatr Surg       Date:  1970-10       Impact factor: 2.545

4.  Triad of anorectal, sacral, and presacral anomalies.

Authors:  G Currarino; D Coln; T Votteler
Journal:  AJR Am J Roentgenol       Date:  1981-08       Impact factor: 3.959

5.  The association of lumbosacral spine and genitourinary anomalies with imperforate anus.

Authors:  W E Berdon; B Hochberg; D H Baker; H Grossman; T V Santulli
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1966-09

6.  Anorectal malformations with sacral bony abnormalities.

Authors:  S Nour; D Kumar; J A Dickson
Journal:  Arch Dis Child       Date:  1989-11       Impact factor: 3.791

7.  Caudal regression anomalad (sacral agenesis) in siblings.

Authors:  N N Finer; P Bowen; L G Dunbar
Journal:  Clin Genet       Date:  1978-04       Impact factor: 4.438

8.  A five-generation family with sacral agenesis and spina bifida: possible similarities with the mouse T-locus.

Authors:  M Fellous; J Boué; C Malbrunot; E Wollman; M Sasportes; N Van Cong; A Marcelli; R Rebourcet; C Hubert; F Demenais; R C Elston; K K Namboodiri; E B Kaplan; M Fellous
Journal:  Am J Med Genet       Date:  1982-08

Review 9.  The syndrome of caudal dysplasia: a review, including etiologic considerations and evidence of heterogeneity.

Authors:  J P Welch; K Aterman
Journal:  Pediatr Pathol       Date:  1984
  9 in total
  1 in total

1.  Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.

Authors:  Beryl Royer-Bertrand; Silvia Castillo-Taucher; Rodrigo Moreno-Salinas; Tae-Joon Cho; Jong-Hee Chae; Murim Choi; Ok-Hwa Kim; Esra Dikoglu; Belinda Campos-Xavier; Enrico Girardi; Giulio Superti-Furga; Luisa Bonafé; Carlo Rivolta; Sheila Unger; Andrea Superti-Furga
Journal:  Sci Rep       Date:  2015-11-24       Impact factor: 4.379
  1 in total

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