Literature DB >> 2604421

Anorectal malformations with sacral bony abnormalities.

S Nour1, D Kumar, J A Dickson.   

Abstract

A range of anorectal malformations with sacral bony abnormalities was found in members from three generations of two kindreds. The anorectal anomaly was low in all but one of the patients. Partial sacral agenesis was the main bony defect in one family, and meningomyelocele and spina bifida occulta were noted in the second. The inheritance pattern in these kinships is autosomal dominant. This may be a variant of caudal regression syndrome, which seems to be aetiologically heterogeneous.

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Year:  1989        PMID: 2604421      PMCID: PMC1792648          DOI: 10.1136/adc.64.11.1618

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


  8 in total

1.  Sacrococcygeal and urological anomalies in connection with congenital malformations of anus and rectum; a preliminary report.

Authors:  K V PARKKULAINEN
Journal:  Ann Paediatr Fenn       Date:  1957

2.  Ano-rectal abnormalities as a congenital familial incidence.

Authors:  K KAIJSER; A MALMSTROM-GROTH
Journal:  Acta Paediatr       Date:  1957-03       Impact factor: 2.299

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.  Hereditary defect of the sacrum.

Authors:  B Say; J G Coldwell
Journal:  Humangenetik       Date:  1975

6.  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

7.  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 8.  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
  8 in total
  6 in total

Review 1.  Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature.

Authors:  Charlotte Schramm; Markus Draaken; Gabriel Tewes; Enrika Bartels; Eberhard Schmiedeke; Stefanie Märzheuser; Sabine Grasshoff-Derr; Stuart Hosie; Stefan Holland-Cunz; Lutz Priebe; Martina Kreiss-Nachtsheim; Per Hoffmann; Stefan Aretz; Markus M Nöthen; Heiko Reutter; Michael Ludwig
Journal:  Eur J Pediatr       Date:  2010-11-02       Impact factor: 3.183

Review 2.  Autosomal dominant sacral agenesis: Currarino syndrome.

Authors:  S A Lynch; Y Wang; T Strachan; J Burn; S Lindsay
Journal:  J Med Genet       Date:  2000-08       Impact factor: 6.318

3.  Disorders of Secondary Neurulation: Suggestion of a New Classification According to Pathoembryogenesis.

Authors:  Jeyul Yang; Ji Yeoun Lee; Kyung Hyun Kim; Hee Jin Yang; Kyu-Chang Wang
Journal:  Adv Tech Stand Neurosurg       Date:  2022

4.  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

5.  Disorders of Secondary Neurulation : Mainly Focused on Pathoembryogenesis.

Authors:  Jeyul Yang; Ji Yeoun Lee; Kyung Hyun Kim; Kyu-Chang Wang
Journal:  J Korean Neurosurg Soc       Date:  2021-04-29

6.  Caudal Agenesis : Understanding the Base of the Wide Clinical Spectrum.

Authors:  Ji Yeoun Lee; Youngbo Shim; Kyu-Chang Wang
Journal:  J Korean Neurosurg Soc       Date:  2021-04-29
  6 in total

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