Abstract
Schwartz-Jampel syndrome, also known as chondrodystrophica myotonia or myotonic myopathy is a rare, autosomal recessive disorder resulting from a defect in chromosome 1p36.1. Around 50 cases have been reported in literature. We present a 3 years old female with Schwartz-Jampel syndrome to highlight the benign course of this disease in some children.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
