ArticleAdvanced biomedical research2015
The Schwartz-Jampel syndrome: Case report and review of literature.
Article in Advanced biomedical research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 16 citations in OpenAlex.
- Schwartz-Jampel Syndrome Type 1: Compound Heterozygosity of Two Novel VariantsJournal of clinical research in pediatric endocrinology · 2026Article
- Perioperative Management of Presumed Schwartz-Jampel Syndrome During Complex Pediatric Spinal Fusion: A Case Report.Case reports in anesthesiology · 2026Article
- Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A.Dermatology and therapy · 2024Article
- Muscle channelopathies: A review.Annals of the Child Neurology Society · 2023Review
- Neonatal Schwartz-Jampel syndrome type II: a rare case of peripheral origin of neonatal hypertonia.BMJ case reports · 2021Article
- Spinal anesthesia in a patient with Schwartz-Jampel syndrome.JA clinical reports · 2020Article
- Nuclear FGFR2 regulates musculoskeletal integration within the developing limb.Developmental dynamics : an official publication of the American Association of Anatomists · 2019Article
- A successful anesthetic approach in a patient with Schwartz-Jampel syndrome.Saudi journal of anaesthesiaArticle
- Orthodontic management of a patient with Schwartz-Jampel Syndrome.Pakistan journal of medical sciencesArticle
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Schwartz-Jampel syndrome (SJS), first described in the United States in 1962, is a hereditary disorder characterized by facial dysmorphism and muscle stiffness. We describe the first case of a Persian 9-year-old boy with SJS and review the literature. The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature, and skeletal deformities. He had proximal muscle hypertrophy, distal muscle wasting and generalized hyporeflexia. Bone X-ray revealed pseudofracture of humerus. Needle electromyography revealed continuous myotonic discharges at rest with no waxing and waning in all tested muscles. Based on clinical and electrodiagnostic findings, the diagnosis of SJS type 1B was made and procainamide was started which resulted in clinical improvement. The diagnosis of SJS should be suspected when a child presents with the triad of myotonia, facial dysmorphism and skeletal deformities.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.