Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/01/26 11:45:03」(JST)
wiki en
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
- 1. 致死的骨格形成異常の出生前診断 prenatal diagnosis of the lethal skeletal dysplasias
- 2. マウス遺伝子：育種戦略と遺伝子工学 mouse genetics breeding strategies and genetic engineering
- 3. 死産の発生率、病因、および予防 incidence etiology and prevention of stillbirth
English Journal
- Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: Case report and differential diagnostic approach.
- Weisman PS, Kashireddy PV, Ernst LM.Author information a Northwestern Memorial Hospital, Pathology.AbstractAbstract The lethal genetic skeletal disorders (GSDs) are a group of GSDs that, by definition, usually result in death in utero or within the perinatal period. As the lethal GSDs are often ultrasonographically detectible by the early midtrimester, dilation and evacuation (D&E) is the method of choice for elective termination of pregnancy in many institutions. However, as the diagnosis of the lethal GSDs relies heavily upon radiologic examination of fetal remains, reaching an accurate diagnosis in this setting can be challenging. We report an autopsy case of a fetus delivered by D&E at 15 4/7 weeks gestation with radiologic, histologic, and genetic findings compatible with achondrogenesis type 2 and discuss an evidence based differential diagnostic approach to lethal GSDs terminated by early midtrimester D&E.
- Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.Pediatr Dev Pathol.2013 Oct 21. [Epub ahead of print]
- Abstract The lethal genetic skeletal disorders (GSDs) are a group of GSDs that, by definition, usually result in death in utero or within the perinatal period. As the lethal GSDs are often ultrasonographically detectible by the early midtrimester, dilation and evacuation (D&E) is the method of c
- PMID 24144387
- The phenotype range of achondrogenesis 1A.
- Grigelioniene G, Geiberger S, Papadogiannakis N, Mäkitie O, Nishimura G, Nordgren A, Conner P.Author information Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.AbstractAchondrogenesis 1A (ACG1A; OMIM 200600) is an autosomal recessive perinatally lethal skeletal dysplasia comprising intrauterine growth failure, micromelia, minor facial anomalies, deficient ossification of the skull, absent or extremely defective spinal ossification, short beaded ribs, and short deformed long bones with a stellate appearance. ACG1A is caused by mutations in the TRIP11 gene, resulting in deficiency of the Golgi microtubule associated protein 210. In this study we describe dizygotic twins with a clinical and radiological phenotype of ACG1A who were homozygous for a novel nonsense mutation in the TRIP11 gene. In addition, another patient with a milder manifestation, not readily distinguishable from those of other lethal skeletal dysplasias, was found to be a compound heterozygote for a nonsense mutation and a deletion of the 3' end of the TRIP11 gene. We conclude that mutations of the TRIP11 gene may encompass a wider phenotypic range than previously recognized.
- American journal of medical genetics. Part A.Am J Med Genet A.2013 Oct;161(10):2554-8. doi: 10.1002/ajmg.a.36106. Epub 2013 Aug 16.
- Achondrogenesis 1A (ACG1A; OMIM 200600) is an autosomal recessive perinatally lethal skeletal dysplasia comprising intrauterine growth failure, micromelia, minor facial anomalies, deficient ossification of the skull, absent or extremely defective spinal ossification, short beaded ribs, and short def
- PMID 23956106
- Cross-sectional study of the neural ossification centers of vertebrae C1-S5 in the human fetus.
- Szpinda M, Baumgart M, Szpinda A, Woźniak A, Mila-Kierzenkowska C.Author information Department of Normal Anatomy, The Ludwik Rydygier Collegium Medicum in Bydgoszcz, The Nicolaus Copernicus University in Toruń, Karłowicza 24 Street, 85-092, Bydgoszcz, Poland, kizanat@cm.umk.pl.AbstractPURPOSE: An understanding of the normal evolution of the spine is of great relevance in the prenatal detection of spinal abnormalities. This study was carried out to estimate the length, width, cross-sectional area and volume of the neural ossification centers of vertebrae C1-S5 in the human fetus.
- Surgical and radiologic anatomy : SRA.Surg Radiol Anat.2013 Oct;35(8):701-11. doi: 10.1007/s00276-013-1093-5. Epub 2013 Feb 28.
- PURPOSE: An understanding of the normal evolution of the spine is of great relevance in the prenatal detection of spinal abnormalities. This study was carried out to estimate the length, width, cross-sectional area and volume of the neural ossification centers of vertebrae C1-S5 in the human fetus.M
- PMID 23455365
Japanese Journal
- 胎児骨系統疾患の超音波による出生前診断 (特集 画像診断と妊婦管理)
- 産婦人科治療 94(1), 51-60, 2007-01
- NAID 40015229641
- Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
- Nat Genet 12, 100-102, 1996
- NAID 80008728371
- Achondrogenesis-hypochondrogenesis : The spectrum of chondrogenesis imperfecta. A radiological, ultrasonographic, and histopathologic study of 23 cases
- Pediatr Pathol 8, 571-597, 1988
- NAID 30030533222
Related Links
- Achondrogenesis. Marco Fraccaro first described achondrogenesis in 1952. ... James Bowman, MD Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University ...
- Achondrogenesis Authors: Doctors Laurence Faivre1 and Valérie Cormier-Daire Creation Date: July 2001 Update: May 2003 Scientific Editor: Doctor Valérie Cormier-Daire 1Consultation de génétique, CHU Hôpital d'Enfants, 10 ...
Related Pictures
★リンクテーブル★
| リンク元 | 「軟骨無発生症」 |
「軟骨無発生症」
- I型
- II型
- グレーベ型