エントリ 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
階層分類 ICD-11 による疾患分類 [BR:jp08403 ] BRITE hierarchy 病因遺伝子 コメント See also
H00991 Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II).
リンク 文献 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 文献 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 文献 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 文献 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 LinkDB All DBs
