Anesthesia for a patient with Williams syndrome

Kato, Toshimasa; Uematsu, H; Yamamoto, Michio

doi:10.1007/s0054090030227

Cited by 4 publications

(2 citation statements)

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“…No muscle biopsy was carried out. A further report on WS in the literature on anesthesia describes a decreased differ ence of arterial pressure between arms (Coanda effect) in duced by general anesthesia, performed for repair of un descended testis (Kato et al, 1989). The entire course of anesthesia was described as otherwise uneventful.…”

Section: Discussionmentioning

confidence: 99%

Anesthesiologic problems in Williams syndrome: the CACNL2A locus is not involved

Mammi

Iles

Smeets³

et al. 1996

Human Genetics

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We present the case of a patient affected with Williams syndrome (WS), who developed a suspected malignant hyperthermia (MH) reaction to general anes thesia. The proximity to the WS region of the gene en coding the L-type voltage-gated calcium channel a 2/8-subunit (CACNL2A) on 7qll.23-q21.1, previously shown to be closely linked to some forms of MH susceptibility, prompted us to investigate whether this gene is deleted in WS. Linkage studies and fluorescence in situ hybridiza tion analysis demonstrated that the CACNL2A locus is lo calized outside the WS deleted region.

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