Literature DB >> 2652130

Meckel-Gruber syndrome: ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case.

A Pachì1, A Giancotti, F Torcia, V de Prosperi, E Maggi.   

Abstract

A case of early diagnosis at 13 weeks' gestational age of Meckel-Gruber syndrome by ultrasound is reported in a patient with a 25 per cent recurrence risk. The usefulness of genetic counselling and aimed echographic examination is discussed.

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Mesh：

Year:  1989        PMID： 2652130     DOI： 10.1002/pd.1970090307

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


  3 in total

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

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

2.  Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

Authors:  Jonna Tallila; Riitta Salonen; Nicolai Kohlschmidt; Leena Peltonen; Marjo Kestilä
Journal:  Hum Mutat       Date:  2009-08       Impact factor: 4.878

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

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