J Pediatr Genet 2012; 01(01): 033-037
DOI: 10.3233/PGE-2012-007
Georg Thieme Verlag KG Stuttgart – New York

Growth profiles of 34 patients with Wolf-Hirschhorn syndrome

Keiko Shimojima
a   Tokyo Women' Medical University Institute for Integrated Medical Sciences, Tokyo, Japan
,
Toshiyuki Yamamoto
a   Tokyo Women' Medical University Institute for Integrated Medical Sciences, Tokyo, Japan
› Author Affiliations

Subject Editor:
Further Information

Publication History

19 September 2010

14 December 2010

Publication Date:
27 July 2015 (online)

Abstract

Wolf-Hirschhorn syndrome (WHS) encompasses multiple congenital anomalies and mental retardation and is caused by partial deletions in the short arm of chromosome 4. Prenatal-onset growth deficiency is one of the WHS characteristics. Assessing and recording growth profiles of patients with WHS were the aims of this study. Anonymous questionnaire surveys were conducted with cooperation of a WHS peer-support group in Japan, and data from 34 WHS patients (12 males and 22 females; age, 1–23 years) were retrospectively collected. Height, weight, and head circumference (occipitofrontal head circumference) were measured and plotted on the standard growth charts of healthy Japanese children. Results indicated that most WHS patients showed growth retardation under the 3rd percentile since the first year of life and extremely poor body-weight gain after pubertal age. These findings are characteristic of WHS patients. The assessed growth patterns in this study could help monitoring and documentation of growth of WHS patients.