TY - JOUR
T1 - Phenotype and Natural History in Marshall-Smith Syndrome
AU - Shaw, Adam C.
AU - van Balkom, Inge D. C.
AU - Bauer, Mislen
AU - Cole, Trevor R. P.
AU - Delrue, Marie-Ange
AU - van Haeringen, Arie
AU - Holmberg, Eva
AU - Knight, Samantha J. L.
AU - Mortier, Geert
AU - Nampoothiri, Sheela
AU - Pušeljić, Silvija
AU - Zenker, Martin
AU - Cormier-Daire, Valerie
AU - Hennekam, Raoul C. M.
PY - 2010
Y1 - 2010
N2 - 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. (C) 2010 Wiley-Liss, Inc
AB - 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. (C) 2010 Wiley-Liss, Inc
U2 - https://doi.org/10.1002/ajmg.a.33709
DO - https://doi.org/10.1002/ajmg.a.33709
M3 - Article
C2 - 20949508
SN - 1552-4825
VL - 152A
SP - 2714
EP - 2726
JO - American journal of medical genetics. Part A
JF - American journal of medical genetics. Part A
IS - 11
ER -