PMID: 29764583May 17, 2018Paper

Syndromic Hirschsprung′s disease and its mode of inheritance

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Jing-Ru Zhang, Zhi-Bo Zhang

Abstract

Hirschsprung′s disease (HSCR) is one of the major causes of chronic incomplete intestinal obstruction in children. HSCR is considered a type of neurocristopathy caused by no colonization of ganglion cells on some parts of the bowel wall due to abnormal termination of the migration of vagal neural cells during embryonic development. This disease can be classified into different types according to the length of the affected intestinal canal. Most HSCR patients present with single deformity, but some HSCR patients are affected by other deformities, which constitutes syndromic HSCR, such as congenital central hypoventilation syndrome, Fryns syndrome, and cartilage-hair hypoplasia syndrome. Most syndromes have abnormal genetic material. An adequate knowledge of syndromic HSCR is of vital importance for accurate diagnosis and prognostic evaluation. This article reviews the clinical manifestations, genetic basis, and genetic modes of different types of syndromic HSCR.

Related Concepts

Related Feeds

Cell Migration

Cell migration is involved in a variety of physiological and pathological processes such as embryonic development, cancer metastasis, blood vessel formation and remoulding, tissue regeneration, immune surveillance and inflammation. Here is the latest research.

Related Papers

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases
Fang Han
Revue des maladies respiratoires
D E Weese-Mayersous-commission « syndrome d’hypoventilation alvéolaire centrale congénitale » de l’American Thoracic Society
Mayo Clinic Proceedings
Damir Matesic, John B Hagan
Journal of Medical Genetics
Outi MäkitieI Kaitila
Acta paediatrica Belgica
J P FrynsH Van den Berghe
© 2022 Meta ULC. All rights reserved