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Literature DB >> 27493335

Meckel-Gruber syndrome: A rare and lethal anomaly.

Abdelmoneim E M Kheir¹, Abdelmutalab Imam², Ilham M Omer¹, Ibtsama M A Hassan¹, Sara A Elamin¹, Esra A Awadalla¹, Mohammed H Gadalla¹, Tagwa A Hamdoon¹.

Abstract

Meckel-Gruber syndrome is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and bilateral dysplastic cystic kidneys. It can be associated with many other conditions. Antenatal ultrasound examination establishes the diagnosis by identifying at least two of the major features described. We describe a female baby who had the typical triad of Meckel-Gruber syndrome and died shortly after birth.

Entities: Disease

Keywords: Meckel-Gruber syndrome; Sudan; anomaly; child

Year: 2012 PMID： 27493335 PMCID： PMC4949827

Source DB: PubMed Journal: Sudan J Paediatr ISSN： 0256-4408

12 in total

1. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

Authors: Ursula M Smith; Mark Consugar; Louise J Tee; Brandy M McKee; Esther N Maina; Shelly Whelan; Neil V Morgan; Erin Goranson; Paul Gissen; Stacie Lilliquist; Irene A Aligianis; Christopher J Ward; Shanaz Pasha; Rachaneekorn Punyashthiti; Saghira Malik Sharif; Philip A Batman; Christopher P Bennett; C Geoffrey Woods; Carole McKeown; Martine Bucourt; Caroline A Miller; Phillip Cox; Lihadh Algazali; Richard C Trembath; Vicente E Torres; Tania Attie-Bitach; Deirdre A Kelly; Eamonn R Maher; Vincent H Gattone; Peter C Harris; Colin A Johnson
Journal: Nat Genet Date: 2006-01-15 Impact factor: 38.330

2. Disruption of a ciliary B9 protein complex causes Meckel syndrome.

Authors: William E Dowdle; Jon F Robinson; Andreas Kneist; M Salomé Sirerol-Piquer; Suzanna G M Frints; Kevin C Corbit; Norann A Zaghloul; Norran A Zaghloul; Gesina van Lijnschoten; Leon Mulders; Dideke E Verver; Klaus Zerres; Randall R Reed; Tania Attié-Bitach; Colin A Johnson; José Manuel García-Verdugo; Nicholas Katsanis; Carsten Bergmann; Jeremy F Reiter
Journal: Am J Hum Genet Date: 2011-07-15 Impact factor: 11.025

3. The Meckel syndrome in Finland: epidemiologic and genetic aspects.

Authors: R Salonen; R Norio
Journal: Am J Med Genet Date: 1984-08

Review 4. Meckel syndrome: genetics, perinatal findings, and differential diagnosis.

Authors: Chih-Ping Chen
Journal: Taiwan J Obstet Gynecol Date: 2007-03 Impact factor: 1.705

5. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

Authors: P Paavola; R Salonen; J Weissenbach; L Peltonen
Journal: Nat Genet Date: 1995-10 Impact factor: 38.330

6. The Meckel syndrome: clinicopathological findings in 67 patients.

Authors: R Salonen
Journal: Am J Med Genet Date: 1984-08

7. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

Authors: Lekbir Baala; Sophie Audollent; Jéléna Martinovic; Catherine Ozilou; Marie-Claude Babron; Sivanthiny Sivanandamoorthy; Sophie Saunier; Rémi Salomon; Marie Gonzales; Eleanor Rattenberry; Chantal Esculpavit; Annick Toutain; Claude Moraine; Philippe Parent; Pascale Marcorelles; Marie-Christine Dauge; Joëlle Roume; Martine Le Merrer; Vardiella Meiner; Karen Meir; Françoise Menez; Anne-Marie Beaufrère; Christine Francannet; Julia Tantau; Martine Sinico; Yves Dumez; Fiona MacDonald; Arnold Munnich; Stanislas Lyonnet; Marie-Claire Gubler; Emmanuelle Génin; Colin A Johnson; Michel Vekemans; Férechté Encha-Razavi; Tania Attié-Bitach
Journal: Am J Hum Genet Date: 2007-06-04 Impact factor: 11.025

8. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

Authors: Marion Delous; Lekbir Baala; Rémi Salomon; Christine Laclef; Jeanette Vierkotten; Kàlmàn Tory; Christelle Golzio; Tiphanie Lacoste; Laurianne Besse; Catherine Ozilou; Imane Moutkine; Nathan E Hellman; Isabelle Anselme; Flora Silbermann; Christine Vesque; Christoph Gerhardt; Eleanor Rattenberry; Matthias T F Wolf; Marie Claire Gubler; Jéléna Martinovic; Féréchté Encha-Razavi; Nathalie Boddaert; Marie Gonzales; Marie Alice Macher; Hubert Nivet; Gérard Champion; Jean Pierre Berthélémé; Patrick Niaudet; Fiona McDonald; Friedhelm Hildebrandt; Colin A Johnson; Michel Vekemans; Corinne Antignac; Ulrich Rüther; Sylvie Schneider-Maunoury; Tania Attié-Bitach; Sophie Saunier
Journal: Nat Genet Date: 2007-06-10 Impact factor: 38.330

Meckel-Gruber syndrome: A rare and lethal anomaly.

1. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

2. Disruption of a ciliary B9 protein complex causes Meckel syndrome.

3. The Meckel syndrome in Finland: epidemiologic and genetic aspects.

Review 4. Meckel syndrome: genetics, perinatal findings, and differential diagnosis.

5. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

6. The Meckel syndrome: clinicopathological findings in 67 patients.

7. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

8. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

9. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.

Review 10. Prenatal diagnosis of recurrent Meckel syndrome.

1. Meckel-Gruber syndrome: Antenatal diagnosis and ethical perspectives.

2. [Meckel Gruber syndrome: about a rare case].

Review 3. The Role of Wnt Signalling in Chronic Kidney Disease (CKD).