multiple congenital anomaly syndrome

先天性多発奇形症候群

WordNet

1. deviation from the normal or common order or form or rule (同)anomalousness
2. a person who is unusual (同)unusual person
3. (astronomy) position of a planet as defined by its angular distance from its perihelion (as observed from the sun)
4. having or involving or consisting of more than one part or entity or individual; "multiple birth"; "multiple ownership"; "made multiple copies of the speech"; "his multiple achievements in public life"; "her multiple personalities"; "a pineapple is a multiple fruit"
5. the product of a quantity by an integer; "36 is a multiple of 9"
6. a pattern of symptoms indicative of some disease
7. a complex of concurrent things; "every word has a syndrome of meanings"
8. present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate

PrepTutorEJDIC

1. 〈U〉〈C〉変則,例外;異常 / 〈C〉変則的な事態,異例な人(物)
2. 多数の部分(要素)から成る,複合の,複式の / 倍数
3. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
4. (病気・身体的欠陥など)生まれつきの,先天的な

UpToDate Contents

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• 1. 先天性奇形に対するアプローチ approach to congenital malformations
• 2. 耳の先天異常 congenital anomalies of the ear
• 3. 鼻の先天異常 congenital anomalies of the nose
• 4. 多胎妊娠の新生児の転帰、合併症、およびマネージメント neonatal outcome complications and management of multiple births
• 5. 先天性腎尿路異常（CAKUT）の概要 overview of congenital anomalies of the kidney and urinary tract cakut

English Journal

• Association of metabolic syndrome traits and severity of kidney stones: results from a nationwide survey on urolithiasis in Japan.

• Kohjimoto Y, Sasaki Y, Iguchi M, Matsumura N, Inagaki T, Hara I.SourceDepartment of Urology, Wakayama Medical University, Wakayama, Japan. Electronic address: ykohji@wakayama-med.ac.jp.
• American journal of kidney diseases : the official journal of the National Kidney Foundation.Am J Kidney Dis.2013 Jun;61(6):923-9. doi: 10.1053/j.ajkd.2012.12.028. Epub 2013 Feb 20.
• BACKGROUND: Although metabolic syndrome and its individual components have been associated with kidney stone disease, whether the clustering of metabolic syndrome traits increases the severity of kidney stone disease has not been examined in a large-scale study.STUDY DESIGN: Cross-sectional analysis
• PMID 23433467

• Regenerating endometrium from stem/progenitor cells: is it abnormal in endometriosis, Asherman's syndrome and infertility?

• Deane JA, Gualano RC, Gargett CE.SourceDepartment of Obstetrics and Gynaecology, Ritchie Centre, Monash Institute of Medical Research, Monash University, Clayton, Victoria, Australia *James A. Deane and Rosa C. Gualano contributed equally to the writing of this article.
• Current opinion in obstetrics & gynecology.Curr Opin Obstet Gynecol.2013 Jun;25(3):193-200. doi: 10.1097/GCO.0b013e32836024e7.
• PURPOSE OF REVIEW: Stem/progenitor cells are present in human and rodent endometrium and have a key role in endometrial regeneration in normal cycling and after parturition. We review emerging evidence of multiple types of endometrial stem/progenitor cells, and that abnormalities in their location a
• PMID 23562953

Japanese Journal

• 皮膚潰瘍にストリッピングを行ったKlippel-Trenaunay症候群の1例

• 河内 順,村山 弘之,荻野 秀光,篠崎 伸明,前川 貢一,渡部 和巨
• 日本臨床外科学会雑誌 74(9), 2635-2638, 2013
• 32歳，男性．一カ月前に転倒し左下腿を打撲．その後，左下腿に皮膚潰瘍が多発し近医より紹介受診．診察上軽度の左下腿静脈瘤があり，超音波検査では左大伏在静脈の逆流，拡張を認め，静脈うっ滞性潰瘍と診断した．また多発する皮膚の母斑，左足肥大から，Klippel-Trenaunay 症候群と診断した．軟膏，弾性ストッキングなど保存的加療を試みたが軽快せず，腰椎麻酔下に大伏在静脈のストリッピング手術を行ったと …
• NAID 130004518852

• 口蓋裂周術期に無呼吸発作を合併した18q- 症候群の治療経験

• 川端 梨乃,河合 勝也,三河内 章子,鈴木 茂彦
• 日本口蓋裂学会雑誌 35(3), 266-269, 2010-10-25
• 18q-症候群の発生頻度は40,000出生に1人，男女比は2：3といわれており，顔貌・四肢・外性器の異常や神経学的異常等を様々な程度に合併する。症例は18q-症候群の3歳男児である。中顔面の低形成，耳介変形，四肢の形態異常，先天性心疾患，精神発達遅滞，発育遅滞等を合併していた。口蓋裂に対し全身麻酔下に口蓋形成術を行った後より無呼吸発作の頻発を認めたが，酸素投与による経過観察でその頻度は減少し，その …
• NAID 10029089178

• Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

• Kuniba Hideo,Yoshiura Koh-ichiro,Kondoh Tatsuro [他],OHASHI Hirofumi,KUROSAWA Kenji,TONOKI Hidefumi,NAGAI Toshiro,OKAMOTO Nobuhiko,KATO Mitsuhiro,FUKUSHIMA Yoshimitsu,KANAME Tadashi,NARITOMI Kenji,MATSUMOTO Tadashi,MORIUCHI Hiroyuki,KISHINO Tatsuya,KINOSHITA Akira,MIYAKE Noriko,MATSUMOTO Naomichi,NIIKAWA Norio
• Journal of human genetics 54(5), 304-309, 2009-05-01
• … The Kabuki syndrome (KS, OMIM 147920), also known as the Niikawa-Kuroki syndrome, is a multiple congenital anomaly/mental retardation syndrome characterized by a distinct facial appearance. …
• NAID 10030730501

Related Links

• Multiple abnormalities - Wikipedia, the free encyclopedia

Multiple abnormalities ... When a patient has multiple abnormalities (multiple anomaly, multiple deformity), they have a congenital abnormality that can not be primarily identified with ... other: Möbius syndrome · Goldenhar syndrome · Cyclopia ...

• Chapter 80. Common Multiple Congenital Anomaly Syndromes

Excerpt:"Definition. A congenital anomaly is defined as a structural defect, present at birth and different from the norm. These anomalies can be further divided into major anomalies that require medical and surgical care (eg, congenital heart ...

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★リンクテーブル★

リンク元	「先天性多発奇形症候群」
関連記事	「anomaly」「congenita」「multiple」「congenital」「syndrome」

「先天性多発奇形症候群」

　　[★]

英

multiple congenital anomaly syndrome

OMIM

SMITH-LEMLI-OPITZ SYNDROME; SLOS	11q12-q13	http://www.ncbi.nlm.nih.gov/omim/270400
SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY B, MEMBER 1; SMARCB1	22q11	http://www.ncbi.nlm.nih.gov/omim/601607
FRYNS SYNDROME; FRNS		http://www.ncbi.nlm.nih.gov/omim/229850
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A		http://www.ncbi.nlm.nih.gov/omim/614887
PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A		http://www.ncbi.nlm.nih.gov/omim/614886
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A		http://www.ncbi.nlm.nih.gov/omim/614883
PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A		http://www.ncbi.nlm.nih.gov/omim/614882
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A		http://www.ncbi.nlm.nih.gov/omim/614876
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A		http://www.ncbi.nlm.nih.gov/omim/614872
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER); PBD6A		http://www.ncbi.nlm.nih.gov/omim/614870
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A		http://www.ncbi.nlm.nih.gov/omim/614866
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A		http://www.ncbi.nlm.nih.gov/omim/614862
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A		http://www.ncbi.nlm.nih.gov/omim/614859
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12; MRD12		http://www.ncbi.nlm.nih.gov/omim/614562
ADAMS-OLIVER SYNDROME 2; AOS2		http://www.ncbi.nlm.nih.gov/omim/614219
RUBINSTEIN-TAYBI SYNDROME 2; RSTS2	22q13	http://www.ncbi.nlm.nih.gov/omim/613684
GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY DEATH; GDFD	16q12.2	http://www.ncbi.nlm.nih.gov/omim/612938
STEVENSON-CAREY SYNDROME		http://www.ncbi.nlm.nih.gov/omim/611961
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES		http://www.ncbi.nlm.nih.gov/omim/602471
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY		http://www.ncbi.nlm.nih.gov/omim/602342
MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS	2q33-q34	http://www.ncbi.nlm.nih.gov/omim/265000
FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY		http://www.ncbi.nlm.nih.gov/omim/228250
TEMTAMY SYNDROME; TEMTYS		http://www.ncbi.nlm.nih.gov/omim/218340
COSTELLO SYNDROME	11p15.5	http://www.ncbi.nlm.nih.gov/omim/218040
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A		http://www.ncbi.nlm.nih.gov/omim/214110
RUBINSTEIN-TAYBI SYNDROME 1; RSTS1	16p13.3	http://www.ncbi.nlm.nih.gov/omim/180849
FEMORAL-FACIAL SYNDROME; FFS		http://www.ncbi.nlm.nih.gov/omim/134780
SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 5A1; SLCO5A1		http://www.ncbi.nlm.nih.gov/omim/613543
SULFATASE 1; SULF1	8q13.3	http://www.ncbi.nlm.nih.gov/omim/610012
MESOMELIA-SYNOSTOSES SYNDROME	8q13	http://www.ncbi.nlm.nih.gov/omim/600383
OPITZ-KAVEGGIA SYNDROME; OKS	Xq13	http://www.ncbi.nlm.nih.gov/omim/305450

参考

• 1.

http://www.ncbi.nlm.nih.gov/pubmed/10528252

「anomaly」

　　[★]

• n.

• 異常、変則。異形。

関

aberrant、aberrantly、aberration、abnormal、abnormality、abnormally、anomalous、anomalously、defect、deviant、exceeding、exception、exceptional、extraordinarily、extraordinary、unusual、unusually

　 　 　 　

「congenita」

　　[★]

• adj.

• (後置するラテン語形容詞)先天性の

関

congenital、congenitally

• ex.

• dyskeratosis congenita、myotonia congenita

「multiple」

　　[★]

• n.

• 倍数

• adj.

関

multifocality、multiplex、plural

　 　 　

「congenital」

　　[★]

• adj.

• 生まれつきの、先天的な

　 　

「syndrome」

　　[★]

• n.

• 症候群