Literature DB >> 6859092

Survival and spectrum of anomalies in the Meckel syndrome.

R B Lowry, R H Hill, B Tischler.   

Abstract

We present two sisters whose malformations (hydrocephalus, cystic dysplasia of the kidneys, polydactyly, and cleft palate) are consistent with a diagnosis of the Meckel syndrome. Diagnosis in case 1 was delayed because of two factors: 1) prolonged survival (28 mo), and 2) the absence of severe craniofacial malformations. These two factors may create difficulties in making this diagnosis and result in uncertainty regarding the medical prognosis of the infant and the genetic prognosis for the parents.

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Year:  1983        PMID: 6859092     DOI: 10.1002/ajmg.1320140303

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  7 in total

1.  Meckel syndrome: what are the minimum diagnostic criteria?

Authors:  C Wright; R Healicon; C English; J Burn
Journal:  J Med Genet       Date:  1994-06       Impact factor: 6.318

2.  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

3.  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

4.  The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

Authors:  Lekbir Baala; Stephane Romano; Rana Khaddour; Sophie Saunier; Ursula M Smith; Sophie Audollent; Catherine Ozilou; Laurence Faivre; Nicole Laurent; Bernard Foliguet; Arnold Munnich; Stanislas Lyonnet; Remi Salomon; Ferechte Encha-Razavi; Marie-Claire Gubler; Nathalie Boddaert; Pascale de Lonlay; Colin A Johnson; Michel Vekemans; Corinne Antignac; Tania Attie-Bitach
Journal:  Am J Hum Genet       Date:  2006-11-15       Impact factor: 11.025

5.  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 6.  Meckel syndrome.

Authors:  R Salonen; P Paavola
Journal:  J Med Genet       Date:  1998-06       Impact factor: 6.318

Review 7.  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

  7 in total

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