| H00993 | |
| H番号 | H00993 |
| 名称 | Taybi-Linder 症候群 |
| 概要 | Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I) is a condition comprising severe intrauterine and postnatal growth retardation, microcephaly, and skeletal anomalies. MOPD I is characterized by short and bowed long bones with enlarged metaphyses. Malformations of the central nervous system have been reported such as partial agenesis of the corpus callosum, hypoplastic frontal lobes, and vermis agenesis. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | RNU4ATAC [HSA:100151683] [KO:K26388] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | See also H00991 Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II). |
| リンク | ICD-11: LD20.2 ICD-10: Q87.1 MeSH: C537577 OMIM: 210710 |
| 文献 | PMID:21474761 著者 Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL タイトル Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. 雑誌 Science 332:240-3 (2011) DOI:10.1126/science.1202205 PMID:9800907 著者 Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourliere B, Ayme S, Philip N タイトル Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature. 雑誌 Am J Med Genet 80:16-24 (1998) DOI:10.1002/(SICI)1096-8628(19981102)80:1<16::AID-AJMG4>3.0.CO;2-5 PMID:21990275 著者 Abdel-Salam GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, Matsumoto N タイトル A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. 雑誌 Am J Med Genet A 155A:2885-96 (2011) DOI:10.1002/ajmg.a.34299 PMID:15372530 著者 Kantaputra PN, Tanpaiboon P, Unachak K, Praphanphoj V タイトル Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome. 雑誌 Am J Med Genet A 130A:181-90 (2004) DOI:10.1002/ajmg.a.30079 |