Cephaloskeletal dysplasia (Taybi-Linder syndrome): Case report and anesthetic considerations
نویسندگان
چکیده
منابع مشابه
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (MOPD). This syndrome is characterized by short stature, skeletal anomalies, severe microcephaly with brain malformations and facial dysmorphism, and is caused by mutations in RNU4ATAC. RNU4ATAC is transcribed into a non-coding small nucle...
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Stiff-person syndrome (SPS) is a neurologic disorder characterized by painful involuntary episodes of severe muscle rigidity affecting the axial muscles and extremities. Although the etiology of SPS is unknown, it is suspected to involve the synthesis of γ-aminobutyric acid (GABA). Symptoms of SPS are precipitated by sudden unexpected movements, noises, and stress. Additionally, SPS has been li...
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ژورنال
عنوان ژورنال: Colombian Journal of Anesthesiology
سال: 2016
ISSN: 2256-2087
DOI: 10.1016/j.rcae.2015.06.006