Literature DB >> 657575

Caudal regression anomalad (sacral agenesis) in siblings.

N N Finer, P Bowen, L G Dunbar.   

Abstract

Hypoplasia of the caudal end of the spine and associated anomalies were observed in two male siblings who also had congenital heart disease. The disorder has overlapping features with the VATER association and the caudal regression anomalad, and probably has a genetic basis, although the mode of inheritance is not clear.

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Mesh：

Year:  1978        PMID： 657575     DOI： 10.1111/j.1399-0004.1978.tb01192.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  9 in total

Review 1.  Familial occurrence of the VATER/VACTERL association.

Authors:  Alina Hilger; Charlotte Schramm; Markus Draaken; Sadaf S Mughal; Gabriel Dworschak; Enrika Bartels; Per Hoffmann; Markus M Nöthen; Heiko Reutter; Michael Ludwig
Journal:  Pediatr Surg Int       Date:  2012-03-16       Impact factor: 1.827

Review 2.  Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.

Authors:  Heiko Reutter; Alina C Hilger; Friedhelm Hildebrandt; Michael Ludwig
Journal:  Pediatr Nephrol       Date:  2016-02-08       Impact factor: 3.714

Review 3.  Caudal regression syndrome--case report and review of literature.

Authors:  Santosh Kumar Singh; Rupa Dalmia Singh; Akhilesh Sharma
Journal:  Pediatr Surg Int       Date:  2005-06-24       Impact factor: 1.827

Review 4.  VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis.

Authors:  Enrika Bartels; Anna C Schulz; Nicole W Mora; Daniel E Pineda-Alvarez; Charlotte H W Wijers; Carlo M Marcelis; Rüdiger Stressig; Jochen Ritgen; Eberhard Schmiedeke; Manuel Mattheisen; Markus Draaken; Per Hoffmann; Alina C Hilger; Gabriel C Dworschak; Friederike Baudisch; Michael Ludwig; Soyhan Bagci; Andreas Müller; Ulrich Gembruch; Annegret Geipel; Christoph Berg; Peter Bartmann; Markus M Nöthen; Iris A L M van Rooij; Benjamin D Solomon; Heiko M Reutter
Journal:  Clin Dysmorphol       Date:  2012-10       Impact factor: 0.816

5.  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

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

Authors:  K Kozlowski; L Bacha; L Brahimi; R Massen
Journal:  Pediatr Radiol       Date:  1990

7.  Familial caudal regression anomalad and maternal diabetes.

Authors:  J M Stewart; S Stoll
Journal:  J Med Genet       Date:  1979-02       Impact factor: 6.318

Review 8.  Classification, clinical features, and genetics of neural tube defects.

Authors:  Mustafa A Salih; Waleed R Murshid; Mohammed Z Seidahmed
Journal:  Saudi Med J       Date:  2014-12       Impact factor: 1.484

9.  Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review.

Authors:  Ali Al Kaissi; Klaus Klaushofer; Franz Grill
Journal:  Cases J       Date:  2008-12-19
  9 in total

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