microstomia/hitasótt

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Malignant hyperthermia in a 3-year-old child with microstomia.

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Freeman-Sheldon syndrome is a congenital disorder that has been suggested to be associated with malignant hyperthermia. Clinical features of the Freeman-Sheldon syndrome include flexion contractures and characteristic facial features, including microstomia and a whistling shape to the lips. We

[Anesthetic management of a child with Schwartz-Jampel syndrome].

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A 6-year-old child with Schwartz-Jampel syndrome (SJS) underwent tenotomy of bilateral lower limbs under general anesthesia. Patient with SJS has problems such as difficulty of intubation owing to microstomia and jaw muscle rigidity, and is susceptible to malignant hyperthermia by using volatile

Mixed connective tissue disease complicated by heart failure in Ile-Ife, Nigeria: management challenges in a resource-limited economy.

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UNASSIGNED Mixed connective tissue disease (MCTD; also known as Sharp's syndrome) is a rare autoimmune inflammatory disorder characterized by high titer of U1 ribonucleoprotein (U1RNP) antibody and clinical and serological overlap of systemic lupus erythematosus, systemic sclerosis, and

Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years.

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We describe two proof-of-concept trials of delayed non-operative therapy of multiple hand and wrist contractures in a woman with a severe expression of Freeman-Sheldon syndrome (FSS), at ages 24 and 28 years. Having presented as an infant to a university referral centre, passive correction was not

Oro-dental manifestations of the Schwartz-Jampel syndrome.

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A boy with the Schwartz-Jampel syndrome (chondrodystrophic myotonia) had a number of oro-dental complications. These included difficulty in tooth extraction and orthodontic care due to a small oral aperture and rigidity of the temporo-mandibular joints. General anaesthesia was hazardous because of a

Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation.

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Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder caused by mutations in CRLF1 (cytokine receptor-like factor 1), characterized by profuse sweating in cold environmental temperature and craniofacial and skeletal features. Mutations in CRLF1 also cause Crisponi syndrome

[Freeman-Sheldon syndrome - phenotype and course of disease on the base of two cases confirmed by molecular study].

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Freeman-Sheldon syndrome is characterized by typical dysmorphic features of the face (microstomia with putting lips and H-shaped dimpling of the chin, giving the appearance of a whistling face) and symmetrical hands and feet defects (camptodactyly, joint contractures). The intelligence quotient is

[Etoposide ameliorated refractory hemophagocytic syndrome in a patient with systemic sclerosis].

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We successfully treated a 33-year-old woman with etoposide who developed systemic sclerosis (SSc)-associated refractory hemophagocytic syndrome (HPS). She had been diagnosed as SSc because she had had Raynaud's phenomenon, proximal scleroderma, telangiectasia, microstomia, thickening and shortening

Schwartz-Jampel syndrome: a review of the literature and case report.

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Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive skeletal dysplasia associated with myotonia. The manifestations of SJS include short stature, blepharophimosis, and skeletal anomalies. The combination of skeletal and muscular abnormalities may result in oro-dental manifestations such as

Anesthesia for Freeman-Sheldon syndrome using a laryngeal mask airway.

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OBJECTIVE To present a case of Freeman-Sheldon syndrome (FSS) with a previously unreported technique of anesthetic management, consisting of a malignant hyperthermia free anesthetic and laryngeal mask airway. METHODS Freeman-Sheldon syndrome (also known as whistling face syndrome, Windmill-Vane-Hand

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