Literature DB >> 12514371

Smith-Magenis syndrome and cyanotic congenital heart disease: a case report.

Janice Tzen-Yuen Wong1, Daisy Kwai-Lin Chan, Keng-Yean Wong, Mary Tan, Christina Rudduck, Sim-Leng Tien.   

Abstract

We report a male newborn infant of Chinese descent with the Smith-Magenis (SMS) syndrome who presented with a severe cyanotic congenital heart disease. This report adds pulmonary atresia and ventricular septal defect to the spectrum of cardiac defects seen in SMS.

Entities:  

Mesh:

Year:  2003        PMID: 12514371     DOI: 10.1097/00019605-200301000-00014

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  1 in total

Review 1.  Appropriate Use of Genetic Testing in Congenital Heart Disease Patients.

Authors:  Seiji Ito; Kimberly A Chapman; Monisha Kisling; Anitha S John
Journal:  Curr Cardiol Rep       Date:  2017-03       Impact factor: 2.931

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.