Literature DB >> 6654326

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

F Majewski, H Stöss, T Goecke, H Kemperdick.   

Abstract

We describe four cases with signs resembling those of Meckel syndrome. Two cases demonstrated postaxial polydactyly; one case, preaxial polydactyly; and one case, pre- and postaxial polydactyly. Since there is at least one other reported case with preaxial polydactyly, it may be a rare sign of the Meckel syndrome. In all four cases, various degrees of bowing of the long tubular bones were observed. Since at least two cases exhibited typical Meckel syndrome and since in a few further reported cases X-ray examination revealed bowing of long tubular bones, this sign is considered to be a further, hitherto not well recognized sign of the Meckel syndrome, and not grounds for delineation of a new syndrome. An extensive review of the literature revealed, that shortened and bowed extremities may be present in about one-sixth of all cases with Meckel syndrome.

Entities:  

Mesh:

Year:  1983        PMID: 6654326     DOI: 10.1007/BF00286648

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  37 in total

1.  [The congenital cystic pancreas].

Authors:  B GIBB
Journal:  Zentralbl Allg Pathol       Date:  1962-08-20

2. 

Authors:  D E Holmdahl
Journal:  Wilhelm Roux Arch Entwickl Mech Org       Date:  1951-12

3.  The Meckel Syndrome. Pathological and cytogenetic observations in eight cases.

Authors:  P Moerman; E Verbeken; J P Fryns; P Goddeeris; J M Lauweryns
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  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

5.  Prenatal diagnosis of Meckel syndrome.

Authors:  J P Fryns; K Vandenberghe; F A Van Assche; J J Cassiman; H van den Berghe
Journal:  J Genet Hum       Date:  1980-12

6.  A casuistic report on the Gruber or Meckel syndrome.

Authors:  P Altmann; P Wagenbichler; A Schaller
Journal:  Hum Genet       Date:  1977-10-14       Impact factor: 4.132

7.  [Three new cases of Meckel's syndrome or Gruber's splanchnocystic dysencephaly in siblings. Anatomo-pathologic and cytogenetic study. Nosologic discussion].

Authors:  J Naffah; G Ghosn; N Gharios
Journal:  Arch Fr Pediatr       Date:  1972-12

8.  Meckel syndrome and the prenatal diagnosis of neural tube defects.

Authors:  M J Seller
Journal:  J Med Genet       Date:  1978-12       Impact factor: 6.318

9.  Prenatal diagnosis of the Meckel syndrome.

Authors:  O Karjalainen; P Aula; M Seppälä; A L Hartikainen-Sorri; M Ryynänen
Journal:  Obstet Gynecol       Date:  1981-06       Impact factor: 7.661

10.  Short rib-polydactyly syndrome, Majewski type, in two male siblings.

Authors:  T Motegi; M Kusunoki; T Nishi; T Hamada; N Sato; T Imamura; N Mohri
Journal:  Hum Genet       Date:  1979-07-18       Impact factor: 4.132

View more
  3 in total

1.  A gene(s) for all-trans-retinoic acid-induced forelimb defects mapped and confirmed to murine chromosome 11.

Authors:  Grace S Lee; Rita M Cantor; Arin Abnoosian; Euisun Park; Mitsuko L Yamamoto; David N Hovland; Michael D Collins
Journal:  Genetics       Date:  2005-03-21       Impact factor: 4.562

2.  Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.

Authors:  K Zerres; M C Völpel; H Weiss
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

Review 3.  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

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.