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Literature DB >> 1552548

Schwartz-Jampel syndrome (chondrodystrophic myotonia).

Abstract

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.

Entities: Disease

Mesh：

Year: 1992 PMID： 1552548 PMCID： PMC1015825 DOI： 10.1136/jmg.29.1.58

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

9 in total

1. Orthopaedic aspects of the Schwartz syndrome.

Authors: F Horan; P Beighton
Journal: J Bone Joint Surg Am Date: 1975-06 Impact factor: 5.284

2. Congenital blepharophimosis associated with a unique generalized myopathy.

Authors: O SCHWARTZ; R S JAMPEL
Journal: Arch Ophthalmol Date: 1962-07

3. Schwartz-Jampel syndrome: II. Na+ channel defect causes myotonia.

Authors: F Lehmann-Horn; P A Iaizzo; C Franke; H Hatt; F Spaans
Journal: Muscle Nerve Date: 1990-06 Impact factor: 3.217

4. The schwartz syndrome in southern africa.

Authors: P Beighton
Journal: Clin Genet Date: 1973-06 Impact factor: 4.438

Review 5. Neonatal manifestations of Schwartz-Jampel syndrome.

Authors: S A Farrell; R G Davidson; P Thorp
Journal: Am J Med Genet Date: 1987-08

6. Malignant hyperpyrexia in a patient with Schwartz-Jampel syndrome.

Authors: A R Seay; F A Ziter
Journal: J Pediatr Date: 1978-07 Impact factor: 4.406

7. Schwartz-Jampel syndrome: I. Clinical, electromyographic, and histologic studies.

Authors: F Spaans; P Theunissen; A D Reekers; L Smit; H Veldman
Journal: Muscle Nerve Date: 1990-06 Impact factor: 3.217

8. Spondylo-epi-metaphyseal dysplasia with myotonia. A radiographic study. (Catel-Hempel syndrome, Schwarz-Jampel syndrome, Aberfeld syndrome, chondrodystrophic myotonia).

Authors: K Kozlowski; G Wise
Journal: Radiol Diagn (Berl) Date: 1974

9. Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation.

Authors: U A Hunziker; G Savoldelli; E Boltshauser; A Giedion; A Schinzel
Journal: Prenat Diagn Date: 1989-02 Impact factor: 3.050

9 in total

Review 1. The cartilage matrisome in adolescent idiopathic scoliosis.

Authors: Carol A Wise; Diane Sepich; Aki Ushiki; Anas M Khanshour; Yared H Kidane; Nadja Makki; Christina A Gurnett; Ryan S Gray; Jonathan J Rios; Nadav Ahituv; Lila Solnica-Krezel
Journal: Bone Res Date: 2020-03-09 Impact factor: 13.567

2. Successful treatment of a child with Schwartz-Jampel syndrome using rapid maxillary expansion and CPAP.

Authors: Supakit Peanchitlertkajorn; Thanate Assawakawintip; Mevadee Pibulniyom; Panida Srisan; Patimaporn Pungchanchaikul; Rasintra Jaroenying
Journal: J Clin Sleep Med Date: 2021-03-01 Impact factor: 4.062

3. Successful airway management using a MultiViewScope handle with a stylet scope in a patient with Schwartz-Jampel syndrome.

Authors: Keika Mukaihara; Kohei Godai; Tomotsugu Yamada; Maiko Hasegawa-Moriyama; Yuichi Kanmura
Journal: JA Clin Rep Date: 2016-11-14

Schwartz-Jampel syndrome (chondrodystrophic myotonia).

1. Orthopaedic aspects of the Schwartz syndrome.

2. Congenital blepharophimosis associated with a unique generalized myopathy.

3. Schwartz-Jampel syndrome: II. Na+ channel defect causes myotonia.

4. The schwartz syndrome in southern africa.

Review 5. Neonatal manifestations of Schwartz-Jampel syndrome.

6. Malignant hyperpyrexia in a patient with Schwartz-Jampel syndrome.

7. Schwartz-Jampel syndrome: I. Clinical, electromyographic, and histologic studies.

8. Spondylo-epi-metaphyseal dysplasia with myotonia. A radiographic study. (Catel-Hempel syndrome, Schwarz-Jampel syndrome, Aberfeld syndrome, chondrodystrophic myotonia).

9. Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation.

Review 1. The cartilage matrisome in adolescent idiopathic scoliosis.

2. Successful treatment of a child with Schwartz-Jampel syndrome using rapid maxillary expansion and CPAP.

3. Successful airway management using a MultiViewScope handle with a stylet scope in a patient with Schwartz-Jampel syndrome.

4. Orthodontic management of a patient with Schwartz-Jampel Syndrome.

Review 5. Anaesthesia and neuromuscular disorders: what a neurologist needs to know.

6. Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.

7. Orbicularis Oculi Myectomy as a Treatment for Blepharospasm in a Case of Schwartz Jampel Syndrome.

8. Schwartz-Jampel syndrome is not related to malignant hyperthermia.

Review 9. The cartilage matrisome in adolescent idiopathic scoliosis.