osteochondrodysplasias/fever

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

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 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.

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

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

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

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

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

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

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,

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

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

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.

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

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