Literature DB >> 8892371

Agenesis of corpus callosum, hypertrophic pyloric stenosis and Hirschsprung disease: coincidence or common etiology?

M Sayed1, S al-Alaiyan.   

Abstract

This article reports a full-term infant with Hirschsprung disease (HD) who was diagnosed to have hypertrophic pyloric stenosis (HPS) and agenesis of corpus callosum (ACC). Pyloric stenosis is known to be associated with HD. To our knowledge, the combination of Hirschsprung disease, hypertrophic pyloric stenosis and agenesis of corpus callosum has not been reported previously. We believe these three conditions are due to an underlying pathophysiologic mechanism.

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Year:  1996        PMID: 8892371     DOI: 10.1055/s-2007-973789

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN: 0174-304X            Impact factor:   1.947


  3 in total

Review 1.  Hirschsprung disease, associated syndromes, and genetics: a review.

Authors:  J Amiel; S Lyonnet
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

2.  Deficiency in endothelin receptor B reduces proliferation of neuronal progenitors and increases apoptosis in postnatal rat cerebellum.

Authors:  Maria Vidovic; Ming-Ming Chen; Qun-Ying Lu; Katherine F Kalloniatis; Ben M Martin; Abel H Y Tan; Celina Lynch; G David H Croaker; Daniel T Cass; Zan-Min Song
Journal:  Cell Mol Neurobiol       Date:  2008-08-06       Impact factor: 5.046

3.  Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing.

Authors:  Clara Sm Tang; Xuehan Zhuang; Wai-Yee Lam; Elly Sau-Wai Ngan; Jacob Shujui Hsu; Y U Michelle; S O Man-Ting; Stacey S Cherny; Ngoc Diem Ngo; Pak C Sham; Paul Kh Tam; Maria-Mercè Garcia-Barcelo
Journal:  Eur J Hum Genet       Date:  2018-02-26       Impact factor: 4.246

  3 in total

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