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Marshall–Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities
Author(s) -
Adam Margaret P.,
Hennekam Raoul C.M.,
Keppen Laura Davis,
Bull Marilyn J.,
Clericuzio Carol L.,
Burke Leah W.,
Ormond Kelly E.,
Hoyme Eugene H.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30580
Subject(s) - connective tissue , natural history , medicine , osteochondrodysplasia , connective tissue disease , failure to thrive , anatomy , respiratory failure , pathology , surgery , disease , autoimmune disease
The Marshall–Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. At least 33 cases have been reported in the literature, mostly as single case reports or small series. The purpose of the present study is to report on the clinical findings and natural history of MSS in five children and to review the features of three others previously reported, with particular attention to the skeletal and connective tissue findings. Our study demonstrates an increased rate of nontraumatic fractures and other bony and connective tissue abnormalities that support the hypothesis that MSS should be considered an osteochondrodysplasia. In addition, long‐term survival beyond infancy is possible if respiratory problems are expectantly and aggressively managed. © 2005 Wiley‐Liss, Inc.