Literature DB >> 21510539

Meckel-Gruber syndrome: a rare clinical entity.

Tulika Jha1, Jayati Bardhan, Bibekananda Das, Kajal Kumar Patra, Badal Dhali, Shelley Seth.   

Abstract

Meckel-Gruber syndrome is an inherited genetic disorder of unknown aetiology. It is an autosomal recessive condition and its incidence is as rare as 1:13,250 to 1:140,000. Some population show an increased incidence of this condition eg, Finnish and Gujarati Indians. Since the time it was first reported by Meckel in 1822 and subsequently by Gruber in 1934, only 200 cases have been reported. Here the case was diagnosed antenatally by an ultrasound and termination of the pregnancy at an early stage was done as per the wishes of the parents. This interesting and rare case of Meckel-Gruber syndrome is reported here.

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Year:  2010        PMID: 21510539

Source DB:  PubMed          Journal:  J Indian Med Assoc        ISSN: 0019-5847


  3 in total

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

Authors:  Sarar Mohamed; Fatima Ibrahim; Kameel Kamil; Satti A Satti
Journal:  Sudan J Paediatr       Date:  2012

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

Authors:  Sanaa Itchimouh; Karima Khabtou; Sakher Mahdaoui; Houssine Boufettal; Naima Samouh
Journal:  Pan Afr Med J       Date:  2016-09-29

3.  Three Novel Variants of CEP290 and CC2D2DA and a Link Between ZNF77 and SHH Signaling Pathway Are Found in Two Meckel-Gruber Syndrome Fetuses.

Authors:  Zhidan Hong; Xuanyi He; Fang Yu; Huanyu Liu; Xiaoli Zhang; Yuanzhen Zhang
Journal:  Reprod Sci       Date:  2022-01-03       Impact factor: 2.924

  3 in total

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