ウィーアッカー症候群
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- 1. ウォルフ・パーキンソン・ホワイト症候群：部位、疫学、臨床症状、診断wolff parkinson white syndrome anatomy epidemiology clinical manifestations and diagnosis [show details]
… addition, a familial form of WPW syndrome is associated with hypertrophic cardiomyopathy (HCM). When discussing the prevalence of WPW, it is important to distinguish between the WPW pattern (ie, ECG abnormalities …
- 2. ウォルフ・パーキンソン・ホワイト症候群（WPW症候群）に伴う症候性不整脈の治療treatment of symptomatic arrhythmias associated with the wolff parkinson white syndrome [show details]
…Patients with the Wolff-Parkinson-White (WPW) syndrome are generally treated because of symptomatic arrhythmia or the risk of a life-threatening arrhythmia. Most asymptomatic adults with the WPW pattern are …
- 3. 明らかな器質的心疾患のない患者に突然生じる心停止の評価approach to sudden cardiac arrest in the absence of apparent structural heart disease [show details]
…evaluation has identified the cause of death as a primary electrical disorder (ie, long QT, Wolff-Parkinson-White [WPW], catecholaminergic polymorphic ventricular tachycardia [CPVT], and Brugada syndrome) in …
- 4. 心電図チュートリアル：早期興奮症候群ecg tutorial preexcitation syndromes [show details]
…ventricular activation is via the normal conduction pathway (His Purkinje system). The Wolff-Parkinson-White (WPW) pattern results from an accessory pathway, the Kent bundle, which directly links the atria …
- 5. 患者教育：ウォルフ・パーキンソン・ホワイト症候群（WPW症候群）（詳細）wolff parkinson white syndrome beyond the basics [show details]
… Wolff-Parkinson-White (WPW) syndrome is a condition in which episodes of fast heart rate (called tachycardia) occur because of an abnormal extra electrical pathway in the heart. People with WPW may experience …
English Journal
- A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings.
- Kondo D, Noguchi A, Takahashi I, Kubota H, Yano T, Sato Y, Toyono M, Sawaishi Y, Takahashi T.
- Brain & development. 2018 Oct;40(9)760-767.
- To reveal a molecular lesion in the ZC4H2 gene in a Japanese family with arthrogryposis multiplex congenita (AMC) and intellectual disability (ID), and to characterize clinical features of patients with ZC4H2 gene mutations through a literature review. The probands are male siblings. The elder broth
- PMID 29803542
- Wieacker-Wolff syndrome with associated cleft palate in a female case.
- Godfrey ND, Dowlatshahi S, Martin MM, Rothkopf DM.
- American journal of medical genetics. Part A. 2018 01;176(1)167-170.
- Wieacker-Wolff syndrome is a rare congenital syndrome with few reported cases in the current literature. It is traditionally described in males as an X-linked recessive disorder associated with congenital contractures of the feet, progressive neurologic muscular atrophy, and intellectual delay cause
- PMID 29150902
- ZC4H2 deletions can cause severe phenotype in female carriers.
- Zanzottera C, Milani D, Alfei E, Rizzo A, D'Arrigo S, Esposito S, Pantaleoni C.
- American journal of medical genetics. Part A. 2017 May;173(5)1358-1363.
- ZC4H2 is involved in human brain development, and, if mutated, can be responsible for a rare X-linked disorder, originally presented in literature as Wieacker-Wolff syndrome and Miles-Carpenter syndrome. In males, severe intellectual disability is associated with variable symptoms of central and per
- PMID 28345801
Related Links
- Symptoms of Wieacker syndrome include stiffening of the muscles and joints of the feet (contracture), slowly progressive atrophy of certain muscles of the legs and arms, and mild intellectual disability. Other symptoms are ...
- 314580 - WIEACKER-WOLFF SYNDROME; WRWF - WIEACKER SYNDROME;; CONTRACTURES OF FEET, MUSCLE ATROPHY, AND OCULOMOTOR APRAXIA;; APRAXIA, OCULOMOTOR, WITH CONGENITAL ...
- Wieacker-Wolff syndrome An extremely rare (six cases in the world literature) X-linked condition (OMIM:314580) condition characterised by malformations of the feet (pes cavus, pes equinovarus, flexed toes), progressive contractures ...
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- ウィーアッカー・ウォルフ症候群 Wieacker-Wolff syndrome
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