title: Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.
abstract: 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.
authors.affiliation: Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA. madam@genetics.emory.edu
authors.forename: Margaret P
authors.initials: MP
authors.lastname: Adam
authors.forename: Raoul C M
authors.initials: RC
authors.lastname: Hennekam
authors.forename: Laura Davis
authors.initials: LD
authors.lastname: Keppen
authors.forename: Marilyn J
authors.initials: MJ
authors.lastname: Bull
authors.forename: Carol L
authors.initials: CL
authors.lastname: Clericuzio
authors.forename: Leah W
authors.initials: LW
authors.lastname: Burke
authors.forename: Kelly E
authors.initials: KE
authors.lastname: Ormond
authors.forename: Eugene H
authors.initials: EH
authors.lastname: Hoyme
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities; D005145:Face / Q000002:abnormalities; D005183:Failure to Thrive / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology; D008297:Male; D010009:Osteochondrodysplasias / Q000473:pathology*; D012120:Respiration Disorders / Q000473:pathology; D013577:Syndrome