Literature DB >> 1168282

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

H Kemperdick, M Ammermann, F Janssen, H Lange, P Moubayed.   

Abstract

The differential diagnosis of Meckel's syndrome and Ellis-van-Creveld's syndrome with encephalocele is summarized utilizing two own observations. Radiographic criteria are of special importance. In EvCS typical signs of chondrodysplasia are present whereas in MS we found pelvic changes similar to Down's syndrome and striking rhomboid deformities of the tibiae. Clinically relevant is ectodermal dyplasia in EvCS, especially, when cystic kidneys in MS are not palpable.

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Year:  1975        PMID: 1168282

Source DB:  PubMed          Journal:  Klin Padiatr        ISSN: 0300-8630            Impact factor:   1.349


  3 in total

1.  Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?

Authors:  F Majewski; H Stöss; T Goecke; H Kemperdick
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

2.  Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.

Authors:  Ranad Shaheen; Eissa Faqeih; Muneera J Alshammari; Abdulrahman Swaid; Lihadh Al-Gazali; Elham Mardawi; Shinu Ansari; Sameera Sogaty; Mohammed Z Seidahmed; Muhammed I AlMotairi; Chantal Farra; Wesam Kurdi; Shatha Al-Rasheed; Fowzan S Alkuraya
Journal:  Eur J Hum Genet       Date:  2012-11-21       Impact factor: 4.246

3.  Roentgenologic features of the Meckel syndrome.

Authors:  U Seppänen; R Herva
Journal:  Pediatr Radiol       Date:  1983
  3 in total

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