Literature DB >> 745218

Meckel syndrome and the prenatal diagnosis of neural tube defects.

M J Seller.   

Abstract

Two fetuses, terminated after prenatal diagnosis of aneural tube defect, had Meckel syndrome. There have now been three fetuses with this syndrome in a series of 35 terminated because of open lesions of the neural tube. It is suggested that such therapeutically aborted fetuses represent a highly selected group, among which a rare condition like Meckel syndrome will be concentrated. The need for a detailed examination of all terminated fetuses is emphasised, for the identification of such an autosomal recessive condition alters the genetic counselling for a future pregnancy.

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Year:  1978        PMID: 745218      PMCID: PMC1013763          DOI: 10.1136/jmg.15.6.462

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  9 in total

1.  Prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with fetoscopy and ultrasound.

Authors:  M J Mahoney; J C Hobbins
Journal:  N Engl J Med       Date:  1977-08-04       Impact factor: 91.245

2.  Relatively high prevalence of the Meckel syndrome among Jews.

Authors:  K Fried
Journal:  Isr J Med Sci       Date:  1973 Sep-Oct

3.  Etiologic heterogeneity of neural-tube defects.

Authors:  L B Holmes; S G Driscoll; L Atkins
Journal:  N Engl J Med       Date:  1976-02-12       Impact factor: 91.245

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 a neural tube defect: Meckel syndrome.

Authors:  M J Seller
Journal:  J Med Genet       Date:  1975-03       Impact factor: 6.318

6.  Prenatal diagnosis of the Meckel syndrome: use of serial ultrasound and alpha-fetoprotein measurements.

Authors:  L J Shapiro; M M Kaback; K E Toomey; D Sarti; P Luther; L Cousins
Journal:  Birth Defects Orig Artic Ser       Date:  1977

7.  Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome.

Authors:  S Mecke; E Passarge
Journal:  Ann Genet       Date:  1971-06

8.  Congenital malformations of the central nervous system in spontaneous abortions.

Authors:  M R Creasy; E D Alberman
Journal:  J Med Genet       Date:  1976-02       Impact factor: 6.318

9.  Prenatal diagnosis of neural tube defects. III. A reevaluation of the alpha-fetoprotein assay.

Authors:  M E Kimball; A Milunsky; E Alpert
Journal:  Obstet Gynecol       Date:  1977-05       Impact factor: 7.661

  9 in total
  9 in total

Review 1.  Ultrasonographic anatomy and diagnosis of fetal uropathies affecting the upper urinary tract. II. Nonobstructive uropathies.

Authors:  J M Duval; J Milon; Y Coadou; J M Blouet; B Langella; T Bourgin; J C Nicolas; B Fremond; J C Duval; H Jouan
Journal:  Surg Radiol Anat       Date:  1986       Impact factor: 1.246

2.  Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.

Authors:  Shruti Khurana; Vikram Saini; Vibhor Wadhwa; Harveen Kaur
Journal:  J Ultrasound       Date:  2017-01-04

3.  The Meckel syndrome in an Irish population: a post mortem study.

Authors:  C Keohane; C Cullinane; F Brett
Journal:  Ir J Med Sci       Date:  1988-12       Impact factor: 1.568

4.  Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

Authors:  Mark B Consugar; Vickie J Kubly; Donna J Lager; Cynthia J Hommerding; Wai Chong Wong; Egbert Bakker; Vincent H Gattone; Vicente E Torres; Martijn H Breuning; Peter C Harris
Journal:  Hum Genet       Date:  2007-03-22       Impact factor: 4.132

5.  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

6.  High incidence of Meckel's syndrome in Gujarati Indians.

Authors:  I D Young; A B Rickett; M Clarke
Journal:  J Med Genet       Date:  1985-08       Impact factor: 6.318

7.  Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

Authors:  Ingeborg Barisic; Ljubica Boban; Maria Loane; Ester Garne; Diana Wellesley; Elisa Calzolari; Helen Dolk; Marie-Claude Addor; Jorieke Eh Bergman; Paula Braz; Elizabeth S Draper; Martin Haeusler; Babak Khoshnood; Kari Klungsoyr; Anna Pierini; Annette Queisser-Luft; Judith Rankin; Anke Rissmann; Christine Verellen-Dumoulin
Journal:  Eur J Hum Genet       Date:  2014-09-03       Impact factor: 4.246

Review 8.  Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.

Authors:  Clare V Logan; Zakia Abdel-Hamed; Colin A Johnson
Journal:  Mol Neurobiol       Date:  2010-11-27       Impact factor: 5.590

Review 9.  Genetics of microphthalmos.

Authors:  M Warburg
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

  9 in total

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