Pallister syndrome

パリスター・キリアン症候群。パリスター症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

1. (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

UpToDate Contents

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• 1. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
• 2. 小頭症に対する臨床遺伝学的アプローチ microcephaly a clinical genetics approach
• 3. 陥没乳頭 nipple inversion
• 4. 先天性横隔膜ヘルニア：出生前診断およびマネージメント congenital diaphragmatic hernia prenatal diagnosis and management
• 5. 昆虫咬傷 insect bites

English Journal

• Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients.

• Wang Z1, Wang J2, Li Y1, Geng J3, Fu Q3, Xu Y4, Shen Y5.
• Clinica chimica acta; international journal of clinical chemistry.Clin Chim Acta.2014 Jun 10;433:195-9. doi: 10.1016/j.cca.2014.03.012. Epub 2014 Mar 22.
• Polydactyly is a common congenital limb deformity. This anomaly may occur in isolation (non-syndromic) or as part of a syndrome. The glioma-associated oncogene family zinc finger 3 (GLI3) is known to be associated with both syndromic and non-syndromic polydactyly. GLI3 plays a predominant role in th
• PMID 24667698

• Laryngeal cleft: Evaluation and management.

• Johnston DR1, Watters K2, Ferrari LR3, Rahbar R2.
• International journal of pediatric otorhinolaryngology.Int J Pediatr Otorhinolaryngol.2014 Jun;78(6):905-911. doi: 10.1016/j.ijporl.2014.03.015. Epub 2014 Mar 27.
• OBJECTIVES: Review the latest diagnostic and treatment modalities for laryngeal and laryngotracheoesophageal clefts as they can be a major cause of respiratory and feeding morbidity in the infant and pediatric population.METHODS: Literature review of published reports.RESULTS: The presentation of la
• PMID 24735606

• The genetics of common disorders - Congenital diaphragmatic hernia.

• Slavotinek AM.
• European journal of medical genetics.Eur J Med Genet.2014 May 2. pii: S1769-7212(14)00097-4. doi: 10.1016/j.ejmg.2014.04.012. [Epub ahead of print]
• Congenital diaphragmatic hernia (CDH) is a common birth defect with a high mortality and morbidity. Although numerous chromosomal aberrations and gene mutations have been associated with CDH, the etiology of the diaphragmatic defect is identified in less than 50% of patients. This review discusses t
• PMID 24793812

Japanese Journal

• Amniocentesis can be useful during the third trimester of pregnancy for antenatal diagnosis of Pallister-Killian syndrome: a case report

• Murakami M.,Iwasa T.,Takahashi Y.,Morine M.
• CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY 38(3), 269-271, 2011
• NAID 120005207093

• 二分喉頭蓋 : 単独ではなく複合奇形の一症候として存在する奇形である

• 鶴見 晴子,ITO Masaki,ISHIKURA Kenji,HATAYA Hiroshi,IKEDA Masahiro,HONDA Masataka,NISHIMURA Gen
• Pediatrics international : official journal of the Japan Pediatric Society 52(5), 723-728, 2010-10-01
• NAID 10028184121

• Positron emission tomography with glucose hypermetabolism of a hypothalamic hamartoma in infantile spasms associated with Pallister-Hall syndrome

• WAKAMOTO Hiroyuki,SUMI Akemi,MOTOKI Takahiro,OHMORI Hiromitsu
• Brain & development 32(8), 677-680, 2010-09-01
• NAID 10027492435

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★リンクテーブル★

リンク元	「パリスター・キリアン症候群」
関連記事	「syndrome」

「パリスター・キリアン症候群」

　　[★]

英

Pallister-Killian syndrome

同

パリスター症候群 Pallister syndrome、キリアン症候群 Killian syndrome、パリスター-キリアン症候群

参考

http://www.pk-syndrome.org/pks_desc_e.htm

• free leaflet

http://www.pkskids.net/UNIQUE.pdf

• wikipedia en

http://en.wikipedia.org/wiki/Pallister%E2%80%93Killian_syndrome

「syndrome」

　　[★]

• n.

• 症候群