| H01834 | |
| H番号 | H01834 |
| 名称 | Marshall-Smith 症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | NFIX [HSA:4784] [KO:K09171] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2C ICD-10: Q87.3 MeSH: C536026 OMIM: 602535 |
| 文献 | PMID:4321601 著者 Marshall RE, Graham CB, Scott CR, Smith DW タイトル Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder. 雑誌 J Pediatr 78:95-101 (1971) DOI:10.1016/S0022-3476(71)80269-X PMID:16086394 著者 Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Ormond KE, Hoyme EH タイトル Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. 雑誌 Am J Med Genet A 137:117-24 (2005) DOI:10.1002/ajmg.a.30580 PMID:20673863 著者 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. 雑誌 Am J Hum Genet 87:189-98 (2010) DOI:10.1016/j.ajhg.2010.07.001 PMID:20949508 著者 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. 雑誌 Am J Med Genet A 152A:2714-26 (2010) DOI:10.1002/ajmg.a.33709 |