Marshall-Smith Syndrome: Case Report.
10.3348/jkrs.2002.47.6.697
- Author:
Jin Yong KIM
1
;
Shi Kyung LEE
;
In Chul CHO
;
Chun Hwan HAN
Author Information
1. Department of Diagnostic Radiology, Kangnam General Hosital Public Corporation, Korea. suribaba@kornet.net
- Publication Type:Case Report
- Keywords:
Bones;
Bones, growth and development;
Children, skeletal system
- MeSH:
Eyebrows;
Facial Bones;
Failure to Thrive;
Korea;
Nose;
Rare Diseases;
Sclera
- From:Journal of the Korean Radiological Society
2002;47(6):697-700
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Marshall-Smith syndrome is a rare disease, with about 29 cases reported to date. It is characterized by accelerated bony growth and maturation, phalangeal abnormalities (wide middle and narrow distal phalanges), unusual facial features (prominent eyes, bluish sclerae, coarse eyebrows, an upturned nose, hypoplastic facial bones, and shallow orbits), failure to thrive, respiratory difficulties, and psychomotor retardation. This report of the radiologic findings of Marshall-Smith syndrome is, as for as we know, the first to be published in Korea.
