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Marshall‐Smith Syndrome: Report of a Case and Review of the Literature
Author(s) -
ENDO Akihiko,
JIN Yuko,
MASUNAGA Ken,
SHIMADA Masami,
FUJITA Yukihiko,
MINATO Michiyoshi,
TAKADA Masaaki,
TAKAHASHI Shigeru,
HARADA Kensuke
Publication year - 1995
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/j.1741-4520.1995.tb00957.x
Subject(s) - failure to thrive , medicine , phalanx , corpus callosum , pediatrics , surgery , anatomy
Marshall‐Smith syndrome is a rare disorder characterized by accelerated skeletal maturation, bullet‐shaped proximal and middle phalanges, dysmorphic facial features, and failure to thrive, and is often associated with mental retardation of variable degree. We describe an 8‐month‐old female with this syndrome, who has a hypoplastic corpus callosum and extreme upper airway obstruction requiring tracheostomy. Also, we review the previous reports of this syndrome since 1971 (Marshall et al., 1971).