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Phenotype and natural history in Marshall-Smith syndrome

Publication Type : Journal Article

Thematic Areas : Medical Sciences

Publisher : American Journal of Medical Genetics

Source : American Journal of Medical Genetics, Part A, Volume 152, Number 11, p.2714-2726 (2010)

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Keywords : Abnormalities, adolescent, adult, anteverted nostril, article, behavior disorder, Bone Diseases, bone malformation, bone maturation, child, clinical article, comparative genomic hybridization, corpus callosum agenesis, Craniofacial Abnormalities, Developmental, developmental disorder, exophthalmos, face malformation, female, human, Humans, infant, kyphoscoliosis, lip malformation, male, malformation syndrome, marshall smith syndrome, Multiple, newborn, phenotype, Preschool, preschool child, priority journal, respiratory tract disease, school child, Septo-Optic Dysplasia, short stature, speech disorder, Time Factors, upper respiratory tract obstruction, Young Adult

Campus : Kochi

School : School of Medicine

Department : Paediatrics

Year : 2010

Abstract : Marshall-Smith syndrome (MSS) is a distinctive entity of unknown etiology with fewer than 50 patients described in the medical literature to date. Through an International collaboration and use of an online wiki to facilitate data collection and sharing, we further delineate the phenotype and natural history of this syndrome. We present 15 new patients, the oldest being 30 years, provide an update on four previously published cases, and compare all patients with other patients reported in literature. Main clinical features are moderate to severe developmental delay with absent or limited speech, unusual behavior, dysharmonic bone maturation, respiratory compromise secondary to upper airway obstruction, short stature, and kyphoscoliosis. Facial features are characteristic with high forehead, underdeveloped midface, proptosis, anteverted nares, and everted lips. Minor abnormalities of brain morphology such as hypoplasia of the corpus callosum are common. Mortality from respiratory complications is high, but airway support increasingly allows survival into adulthood. Array-CGH was performed on 12 of the cohort and no copy number variants of clear clinical relevance were identified. The present study is the first reported use of an online wiki to aid delineation of a genetic syndrome, and illustrates its value in collecting detailed data in rare conditions. © 2010 Wiley-Liss, Inc.

Cite this Research Publication : A. Ca Shaw, Van Balkom, I. Dbc, Bauer, Md, Cole, T. Re, Delrue, Mf, Van Haeringen, Ag, Holmberg, Eh, Knight, S. Ji, Mortier, Gj, Nampoothiri, Sk, Pušeljić, Sl, Zenker, Mm, Cormier-Daire, Vn, and Hennekam, R. Co, “Phenotype and natural history in Marshall-Smith syndrome”, American Journal of Medical Genetics, Part A, vol. 152, pp. 2714-2726, 2010.

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