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Campomelic dysplasia and malignant hyperthermia.

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Prijava / prijava

Campomelic dysplasia (CD) is a rare clinical entity, usually fatal in the first year of life. It is characterised by bowing and angulations of long bones, along with other congenital anomalies. The occurrence of malignant hyperthermia is rare, but it has been associated with skeletal dysplasias. The

Multidisciplinary approach to the treatment of a patient with chondrodystrophic myotonia (Schwartz-Jampel vel Aberfeld syndrome): case report and literature review.

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Prijava / prijava

Chondrodystrophic myotonia, Schwartz-Jampel syndrome, is a rare congenital disorder, which results from disturbance in a perlecan protein synthesis. Most affected are the muscles, acting in generalized myotonia, leading to joint contractures, weird-looking mask-like face appearance, and causing

Schwartz-Jampel syndrome (chondrodystrophic myotonia).

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Prijava / prijava

Schwartz-Jampel syndrome is a rare autosomal recessive disorder. Joint contractures, generalised myotonia, skeletal anomalies, and facial dysmorphism are common features; malignant hyperthermia is a potentially lethal complication during anaesthesia.

[Osseous abnormalities and CT findings in Stueve-Wiedemann-Syndrome (SWS)].

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OBJECTIVE Analysis of typical conventional radiological and CT findings in our group of patients with the rare skeletal dysplasia Stueve-Wiedemann-Syndrome (SWS) and comparison with published data. METHODS In 16 newborns with clinically dysmorphic features, dwarfism, and bowed limbs, radiographs of

Case report of prenatal diagnosis of Stüve-Wiedemann Syndrome in a woman with another child affected too.

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Prijava / prijava

OBJECTIVE Stüve-Wiedemann Syndrome (SWS; MIM 601 559) is an autosomal-recessive syndrome characterized by myotonia with mask-like face, skeletal dysplasia and intrauterine growth restriction. Other clinical findings are pursed mouth, hypoplastic midface, congenital contractures and muscular

Oro-dental manifestations of the Schwartz-Jampel syndrome.

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Prijava / prijava

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

Anesthesia for Stüve-Wiedemann syndrome: a rare adult patient case report

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Prijava / prijava

Stüve-Wiedemann syndrome (SWS) is a rare genetic disorder characterized by skeletal dysplasia and severe dysautonomia, evidencing a difficult airway approach and likely increased malignant hyperthermia susceptibility. Developmental dysmorphism classically worsens with age, therefore translating in a

Spinal anesthesia in a patient with Schwartz-Jampel syndrome

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Prijava / prijava

Background: Schwartz-Jampel syndrome (SJS) is a very rare inherited disorder characterized by multiple skeletal deformities, limited joint mobility, micrognathia, blepharophimosis, myotonia, and growth retardation. SJS is caused by

Radiological manifestations of the skeleton, lungs and brain in Stueve-Wiedemann syndrome.

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Prijava / prijava

A total of 25 patients with the rare skeletal dysplasia Stueve-Wiedemann syndrome (SWS) have been evaluated during the last 11 years. Of all patients with clinical suspicion of SWS, skeletal and chest radiographs were obtained for classification of the underlying skeletal dysplasia. In one case, CT

[Anesthetic management of a patient with Dyggve-Melchior-Clausen syndrome].

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Prijava / prijava

The Dyggve-Melchior-Clausen syndrome (DMCS) is a rare autosomal recessive skeletal dysplasia characterized by short-trunk dwarfism and mental retardation. A 49-year-old male with DMCS underwent resection arthroplasty for contracture of the right hip joint under general anesthesia using thiamylal,

Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia.

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Prijava / prijava

Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, nephrotic syndrome, and cell-mediated immunodeficiency. Mutations in the SMARCAL1 gene (SW1/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily

Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".

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Prijava / prijava

Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. This disorder is reminiscent of another rare condition, the Stüve-Wiedemann syndrome (SWS), which comprises

Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia: A case report.

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Prijava / prijava

BACKGROUND Acute promyelocytic leukemia (APL) is a kind of acute myeloid leukemia, which was characterized by the presence of PML/RARα fusion gene. Mutations in CHST3 have been previously reported to be associated with a rare phenotype of skeleton dysplasia, known as Spondyloepiphyseal dysplasia.

Rhabdomyolysis in Stuve-Wiedemann syndrome.

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Prijava / prijava

A 6-month-old male infant with Stuve-Wiedemann syndrome (SWS) presented with an acute respiratory arrest secondary to a rhinovirus respiratory infection from which he was rapidly resuscitated. He developed an acute kidney injury requiring supportive treatment and on day 3 of his illness was noted to

[Short stature, optic nerve atrophy and Pelger-Huët anomaly syndrome with antibody immunodeficiency and aplastic anemia: a case report and literature review].

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Prijava / prijava

Objective: To investigate the clinical features and genetic characteristics of cases with NBAS gene defects. Method: Characteristics of clinical materials, immunological data and gene mutation of the first case in China with NBAS gene mutation were retrospectively analyzed. The related literature

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