congenital anomaly

出典: meddic

先天性異常

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2012/10/23 21:59:26」(JST)

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英文文献

  • Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.
  • Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N.SourceDepartment of Human Genetics, Yokohama City Graduate School of Medicine, Yokohama, Japan Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan Department of Pediatrics, Toyama Prefectural Central Hospital, Toyama, Japan.
  • Clinical genetics.Clin Genet.2013 Feb;83(2):135-44. doi: 10.1111/j.1399-0004.2012.01885.x. Epub 2012 May 1.
  • Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N. Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients. Oral-facial-digital syndrome type 1 (O
  • PMID 22548404
  • Cervical spine anomalies in children and adolescents.
  • Kim HJ.SourceHospital for Special Surgery, New York, New York, USA.
  • Current opinion in pediatrics.Curr Opin Pediatr.2013 Feb;25(1):72-7. doi: 10.1097/MOP.0b013e32835bd4cf.
  • PURPOSE OF REVIEW: Cervical spine anomalies in paediatric patients are difficult to recognize due to the unique anatomy of the developing spine as well as the rarity of their occurrence.RECENT FINDINGS: Radiographic interpretation is critical to arriving at the correct diagnosis for cervical spine a
  • PMID 23263023
  • Topography of brain damage in metabolic hypoglycaemia is determined by age at which hypoglycaemia occurred.
  • Gataullina S, Lonlay PD, Dellatolas G, Valayannapoulos V, Napuri S, Damaj L, Touati G, Altuzarra C, Dulac O, Boddaert N.Source Neuropediatrics Department, Necker-Enfants Malades Hospital, AP-HP, Paris;  Centre for Inherited Metabolic Disorders, Necker-Enfants Malades Hospital AP-HP, Université Paris Descartes, Paris;  Inserm U669, Université Paris Descartes, Université Paris-Sud, Paris;  Reference Centre for Inherited Metabolic Disorders, Necker-Enfants Malades Hospital AP-HP, Paris;  Paediatric Department, CHU Hôpital Sud, Rennes;  Paediatric Department, CHU Hôpital Saint-Jacques, Besançon;  INSERM UMR663, Université Paris Descartes, Paris;  Radiologic Department, Necker-Enfants Malades Hospital, AP-HP, Université Paris Descartes, Paris, France.
  • Developmental medicine and child neurology.Dev Med Child Neurol.2013 Feb;55(2):162-166. doi: 10.1111/dmcn.12045. Epub 2012 Dec 4.
  • Aim  Having previously shown that comorbidity is a major determinant of neurological sequelae in hypoglycaemia, our aim was to describe the neuroimaging patterns of brain damage in different hypoglycaemic situations and to elucidate the factors that determine lesion topography. Method  We review
  • PMID 23205874

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  • Norwood Procedure Performed on a Patient With Trisomy 13

関連リンク

関連画像

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★リンクテーブル★
リンク元先天異常」「先天奇形
関連記事congenital

先天異常」

  [★]

congenital anomaly, congenital abnormality
congenitalis anomalia
先天性異常
[[]]
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発生

  • 発生第3-8週(妊娠第5-11週)に器官原基形成(発生第3週に三胚葉性胚盤となり、第3週末に中枢神経の分化が始まり第8週までに主要な器官原基が確立される。

感受性の高い時期

妊娠区分 妊娠初期
胎齢     0 1 2 3 4 5 6 7 8 9 10 11 12 13
妊娠週数 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15
妊娠月数 第1月 第2月 第3月 第4月
  器官原基形成  

原因

NGY.512
  • 外因的因子
  • 感染因子
  • 物理的因子
  • X線:小頭症、二分脊椎、口蓋裂、四肢の異常
  • 高熱:無脳症
  • 化学的因子
  • 耐糖能異常合併妊娠:種々の奇形:心臓や神経管の異常
  • 内因的因子
  • 染色体異常
  • 遺伝子異常



先天奇形」

  [★]

congenital malformation, congenital anomaly
先天奇形症候群、先天性奇形



congenital」

  [★]

  • adj.
  • 生まれつきの、先天的な

WordNet   license wordnet

「present at birth but not necessarily hereditary; acquired during fetal development」
inborn, innate

PrepTutorEJDIC   license prepejdic

「(病気・身体的欠陥など)生まれつきの,先天的な」




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