A Case of Young-Simpson Syndrome.
- Author:
Ja Young HWANG
1
;
Se Young SEO
;
Seong Hoon HAHN
;
So Young KIM
;
Hyun Hee KIM
;
Wonbae LEE
Author Information
1. Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea. LWB@hfh.cuk.ac.kr
- Publication Type:Case Report
- Keywords:
Young Simpson syndrome
- MeSH:
Child, Preschool;
Congenital Hypothyroidism;
Female;
Heart Defects, Congenital;
Humans;
Intellectual Disability;
Korea;
Muscle Hypotonia
- From:Korean Journal of Pediatrics
2005;48(9):1016-1018
- CountryRepublic of Korea
- Language:English
-
Abstract:
Young Simpson syndrome is a rare malformation syndrome characterized by congenital hypothyroidism, dysmorphic face, mental retardation, severe postnatal growth retardation, hypotonia and congenital heart abnormalities. In the present study, we report a case of 4-year-old girl with Young Simpson syndrome for the first case in Korea.
