Korean J Pediatr.  2005 Sep;48(9):1016-1018.

A Case of Young-Simpson Syndrome

Affiliations
  • 1Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea. LWB@hfh.cuk.ac.kr

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.

Keyword

Young Simpson syndrome

MeSH Terms

Child, Preschool
Congenital Hypothyroidism
Female
Heart Defects, Congenital
Humans
Intellectual Disability
Korea
Muscle Hypotonia
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