Literature DB >> 6428792

Familial congenital short small bowel with associated defects. A long-term survival.

C Sansaricq, W J Chen, M Manka, D Davis, S Snyderman.   

Abstract

In 1974, Royer et al. described a familial syndrome consisting of a short and sluggish small bowel, malrotation of the gut, and pyloric stenosis. These authors stressed the uniformly fatal outcome of their four cases, as well as other possibly unrecognized cases previously described in the literature. The present report deals with two more familial cases, of which one represents a long-term survivor of the syndrome. The intensive work of maintaining nutrition, controlling infection, and managing the complications of associated defects are described.

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Year:  1984        PMID: 6428792     DOI: 10.1177/000992288402300809

Source DB:  PubMed          Journal:  Clin Pediatr (Phila)        ISSN: 0009-9228            Impact factor:   1.168


  7 in total

1.  First Report of Congenital Short Bowel Syndrome in an Iranian Patient Caused by a Mutation in the CLMP Gene.

Authors:  Jalal Gharesouran; Behnaz Salek Esfahani; Saeed Farajzadeh Valilou; Mohsen Moradi; Mir Hadi Mousavi; Maryam Rezazadeh
Journal:  J Pediatr Genet       Date:  2018-10-26

2.  Total absence of the small bowel in a premature neonate.

Authors:  Gail E Besner; Gregory D Bates; Carl P Boesel; Vivekanand Singh; Stephen E Welty; Cynthia A Corpron
Journal:  Pediatr Surg Int       Date:  2005-04-05       Impact factor: 1.827

Review 3.  Congenital short bowel syndrome: a case report and review of the literature.

Authors:  Mohammed Hasosah; Daniel A Lemberg; Eric Skarsgard; Richard Schreiber
Journal:  Can J Gastroenterol       Date:  2008-01       Impact factor: 3.522

4.  Jun N-terminal kinase maintains tissue integrity during cell rearrangement in the gut.

Authors:  Michael K Dush; Nanette M Nascone-Yoder
Journal:  Development       Date:  2013-03-05       Impact factor: 6.868

5.  Case report: Congenital short bowel syndrome.

Authors:  Lalitha Palle; Balaji Reddy
Journal:  Indian J Radiol Imaging       Date:  2010-08

6.  Whole-Exome Sequencing Identified Novel CLMP Mutations in a Family With Congenital Short Bowel Syndrome Presenting Differently in Two Probands.

Authors:  Yao-Hung Chuang; Wen-Lang Fan; Yu-De Chu; Kung-Hao Liang; Yuan-Ming Yeh; Chien-Chang Chen; Cheng-Hsun Chiu; Ming-Wei Lai
Journal:  Front Genet       Date:  2020-12-15       Impact factor: 4.599

7.  Congenital Short-Bowel Syndrome Is Associated With a Novel Deletion Mutation in the CLMP Gene: Mutations in CLMP Caused CSBS.

Authors:  Fen-Fen Ou; Ming-Jie Li; Li-Bin Mei; Xin-Zhu Lin; Yan-An Wu
Journal:  Front Pediatr       Date:  2022-01-17       Impact factor: 3.418

  7 in total

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