Literature DB >> 15503488

Prenatal diagnosis of Meckel-Gruber syndrome and Dandy-Walker malformation in four consecutive affected siblings, with the fourth one being diagnosed prenatally at 22 weeks of gestation.

Sevim Balci1, Fulya Tekşen, Fulya Dökmeci, Bora Cengiz, Ruhi Bariş Cömert, Bilge Can, Sükrü Ozdamar.   

Abstract

We report a 23-week-old male fetus affected by Meckel-Gruber syndrome. Posterior encephalocele, post-axial polydactyly, and Dandy-Walker malformation were observed on ultrasonographic (USG) examination at 22 weeks' gestation, and lobar holoprosencephaly was demonstrated on postmortem magnetic resonance imaging (MRI) prior to autopsy. After the termination of the pregnancy, polycystic dysplastic kidneys were also noted at postmortem investigation. The proband was the product of the fourth pregnancy of a consanguineous family in which all three siblings were also similarly affected. Interestingly, both the two-year-old affected sister and 23-week-old male fetus had Dandy-Walker complex.

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Year:  2004        PMID: 15503488

Source DB:  PubMed          Journal:  Turk J Pediatr        ISSN: 0041-4301            Impact factor:   0.552


  6 in total

1.  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

2.  Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.

Authors:  Jill A Rosenfeld; Blake C Ballif; Donna M Martin; Arthur S Aylsworth; Bassem A Bejjani; Beth S Torchia; Lisa G Shaffer
Journal:  Hum Genet       Date:  2010-04       Impact factor: 4.132

Review 3.  Classification, clinical features, and genetics of neural tube defects.

Authors:  Mustafa A Salih; Waleed R Murshid; Mohammed Z Seidahmed
Journal:  Saudi Med J       Date:  2014-12       Impact factor: 1.484

4.  Semilobar holoprosencephaly in a 12-month-old baby boy born to a primigravida patient with type 1 diabetes mellitus: a case report.

Authors:  Pedro Pallangyo; Frederick Lyimo; Paulina Nicholaus; Hilda Makungu; Maria Mtolera; Isaac Mawenya
Journal:  J Med Case Rep       Date:  2016-12-20

5.  Holoprosencephaly.

Authors:  Ameer Hamza; Martha Jaye Higgins
Journal:  Autops Case Rep       Date:  2017-12-08

6.  Meckel gruber syndrome: report of two cases with review of literature.

Authors:  Aneel Myageri; Vandana Grampurohit; Ravikala Rao
Journal:  J Family Med Prim Care       Date:  2013-01
  6 in total

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