Related Experiment Video
Updated: Jul 9, 2026

Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering
Published on: November 22, 2019
Patient with unusual Hutchinson-Gilford syndrome (progeria)
S Matsuo1, Y Takeuchi, S Hayashi
1Department of Pediatrics, Children's Research Hospital, Kyoto, Japan.
Abstract:
A patient with unusual Hutchinson-Gilford syndrome (progeria) is reported. This 7-year-old boy had all the characteristics of progeria, except for coxa valga and the "horse-riding" stance. A previous cerebral infarction was detected in the right putamen on cranial magnetic resonance imaging. During treadmill exercise test electrocardiography, ST depression suggested the existence of arteriosclerotic lesions. Skin fibroblast culture exhibited 76% DNA-repair capacity compared to normal. He has not manifested endocrinologic abnormalities. From these findings it is concluded that this patient has an incomplete case of Hutchinson-Gilford syndrome and that a correlation may exist between the clinical features and the degree of DNA-repair capacity.
Related Concept Videos
Pleiotropy
Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
iPS Cell Differentiation
Inborn Errors of Metabolism
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Huntington Disease l: Introduction

