Literature DB >> 6646886

Roentgenologic features of the Meckel syndrome.

U Seppänen, R Herva.   

Abstract

The Meckel syndrome is an autosomal recessive lethal malformation syndrome. The main features are multicystic dysplastic kidneys, microcephaly with occipital encephalocele and polydactyly. This paper describes 6 new cases, with special reference to skeletal findings in postmortem total body radiographs. Microcephaly with an occipital bone defect and encephalocele or hydrocephaly [1/6], short upper extremities, bell-shaped thorax with abdominal distension and postaxial polydactyly in the hands and feet were constant findings in these cases.

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Mesh:

Year:  1983        PMID: 6646886     DOI: 10.1007/BF01625959

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


  5 in total

1.  [The differential diagnosis of the Meckel syndrome and the Ellis-van-Creveld syndrome with encephalocele (author's transl)].

Authors:  H Kemperdick; M Ammermann; F Janssen; H Lange; P Moubayed
Journal:  Klin Padiatr       Date:  1975-01       Impact factor: 1.349

2.  Prenatal diagnosis of Meckel syndrome: alpha-feto protein and beta-trace protein in amniotic fluid.

Authors:  J Chemke; A Miskin; Z Rav-Acha; A Porath; M Sagiv; Z Katz
Journal:  Clin Genet       Date:  1977-04       Impact factor: 4.438

3.  Prenatal diagnosis of the Meckel syndrome.

Authors:  P Aula; O Karjalainen; J Rapola; J Lindgren; M Seppälä
Journal:  Am J Obstet Gynecol       Date:  1977-11-15       Impact factor: 8.661

4.  Phenotypic variation in Meckel syndrome.

Authors:  M J Seller
Journal:  Clin Genet       Date:  1981-07       Impact factor: 4.438

5.  Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly".

Authors:  F C Fraser; A Lytwyn
Journal:  Am J Med Genet       Date:  1981
  5 in total
  2 in total

Review 1.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

Review 2.  Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.

Authors:  Verity Hartill; Katarzyna Szymanska; Saghira Malik Sharif; Gabrielle Wheway; Colin A Johnson
Journal:  Front Pediatr       Date:  2017-11-20       Impact factor: 3.418

  2 in total

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