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. The majority of reported cases died in infancy or early childhood commonly from respiratory compromise. A study demonstrates that NFIX haploinsufficiency is responsible for MSS.
Malan V, Rajan D, Thomas S, Shaw AC, Louis Dit Picard H, Layet V, Till M, van Haeringen A, Mortier G, Nampoothiri S, Puseljic S, Legeai-Mallet L, Carter NP, Vekemans M, Munnich A, Hennekam RC, Colleaux L, Cormier-Daire V
タイトル
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
Shaw AC, van Balkom ID, Bauer M, Cole TR, Delrue MA, Van Haeringen A, Holmberg E, Knight SJ, Mortier G, Nampoothiri S, Puseljic S, Zenker M, Cormier-Daire V, Hennekam RC
タイトル
Phenotype and natural history in Marshall-Smith syndrome.
