ゴーリン・コーエン症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (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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English Journal
- Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome).
- Ganigara A, Nishtala M, Chandrika YR, Chandrakala KR.
- Journal of anaesthesiology, clinical pharmacology.J Anaesthesiol Clin Pharmacol.2014 Apr;30(2):279-80. doi: 10.4103/0970-9185.130100.
- Frontometaphyseal dysplasia (FMD), also called Gorlin-Cohen syndrome, is a rare hereditary X-linked dominant craniotubular bone disorder. The presentation describes the airway management of a 2-year-old child suffering from FMD with significant retrognathia, posted for major long bone corrective ost
- PMID 24803775
- Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report.
- Vakalopoulos I1, Kampantais S, Dimopoulos P, Papastavros C, Katsikas V.
- BMC urology.BMC Urol.2012 Jan 10;12:2. doi: 10.1186/1471-2490-12-2.
- BACKGROUND: Frontometaphyseal dysplasia, or Gorlin-Cohen syndrome, is an X-linked disorder primarily characterized by skeletal dysplasia, such as hyperostosis of the skull and abnormalities of tubular bone modeling. Some patients develop extraskeletal manifestations, such as urinary tract anomalies.
- PMID 22233653
- Foot deformity in frontometaphyseal dysplasia (Gorlin-Cohen syndrome): a case report.
- Vinay S1, Andreas R, Bernhard ZE, Gerhardt S.
- The Journal of foot and ankle surgery : official publication of the American College of Foot and Ankle Surgeons.J Foot Ankle Surg.2000 Mar-Apr;39(2):131-5.
- A case of frontometaphyseal dysplasia (Gorlin-Cohen syndrome) in a child is described. The boy showed characteristic musculoskeletal changes, and had bilateral symptomatic cavovarus deformities of the feet. Surgical management of the foot deformities and the outcome are discussed.
- PMID 10789105
Related Links
- Bibliography R. J. Gorlin, M. M. Cohen, Jr: Frontometaphyseal dysplasia: A new syndrome. American Journal of Diseases of Children, Chicago, 1969, 118: 487-494. J. F. Holt, et al: Frontometaphyseal dysplasia. Radiologic Clinics of ...
- ABSTRACT The classical case of a Gorlin-Cohen-Syndrom (= fronto-metaphyseal dysplasis=FMD) is presented. The disease has been mentioned in literature for the first time in 1969 and has been described four times up to now. The ...
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