J Korean Radiol Soc.  2002 Dec;47(6):697-700. 10.3348/jkrs.2002.47.6.697.

Marshall-Smith Syndrome: Case Report

• Kim JY
• Lee SK
• Cho IC
• Han CH

• KMID: 2103694
• DOI: http://doi.org/10.3348/jkrs.2002.47.6.697

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.

Keyword

Bones; Bones, growth and development; Children, skeletal system

MeSH Terms

Eyebrows
Facial Bones
Failure to Thrive
Korea
Nose
Rare Diseases
Sclera